bluuebunny/crossref_metadata_2025 huggingface dataset:
Skeletal Response to Maxillary Protraction in Patients with Cleft Lip and Palate before Age 10 Years
Authors: Tindlund Rolf S.
Published: October 2018

Over the last 15 years, cleft lip and palate (CLP) patients with maxillary deficiency in the care of the Bergen CLP Team have received interceptive orthopedic treatment to correct anterior and posterior crossbites during the deciduous and mixed dentition periods. The present study comprises 72 subjects of various cleft types with anterior crossbite, treated to an acceptable positive overjet by maxillary protraction using a facial mask (Delaire). Lateral cephalograms were taken immediately before and after the active treatment periods. Individuals exhibiting a favorable (fair) skeletal response to the protraction were compared with those who revealed little, (poor) skeletal response. Two cephalometric variables were chosen for the evaluation of the sagittal skeletal treatment changes: (1) the sagittal maxillomandibular change (change of angle ss-n-sm [ANB]); and (2) the forward movement of the maxilla (change of distance NSP-maxp), where maxp (maxillary point) represents the anterior contour of maxilla and NSP is the perpendicular to the naslon-sella-line (NSL) through sella. A numerical change greater than or equal to the value 1.5 (degrees or mm, respectively) was classified as fair versus poor response revealing a change less than 1.5. Fair-response (favorable response) of sagittal maxillomandibular change was found in 63 % of the cases (mean increase of angle ANB was 3.3 degrees), more often when protraction started early. The length of maxilla was increased, the skeletal maxilla was moved forward 1.8 mm, the upper dentition advanced 3.6 mm, the occlusal line was clockwise rotated, and the anterior face height was increased. Similarly, fair-response of forward movement of maxilla was found in 44% of the cases (mean increase of distance NSP-maxp was 2.4 mm), more often when protraction was started early and after long treatment duration. The maxillary prognathism increased 1.8 degrees, the angle ANB increased 3 degrees, the length of maxilla increased 1.5 mm, and the upper dentition was advanced 3.7 mm. The anterior face height increased with counterclockwise rotation of the nasal line, whereas the occlusal line was clockwise rotated. A paired fair-response of both skeletal maxillomandibular change and skeletal forward movement of maxilla was found in 35% of the cases. During protraction the mean increase of maxillary prognathism was 2.1 degrees, the maxilla moved forward 3.1 mm, the maxillary dentition advanced 4.3 mm, the maxillary length increased 1.9 mm, the ANB angle increased 3.7 degrees, and the lower anterior facial height increased 3.4 mm.
Facial Left-Right Dominance in Cleft Lip and Palate: Three-Dimension Evaluation
Authors: Ras Frank , Habets Luc L.M.H. , Van Ginkel Floris C. , Prahl-Andersen Birte
Published: October 2018

Studies on facial left-right dominance in individuals without craniofacial anomalies have demonstrated controversial results. This is probably due to the frequent use of two-dimensional methods, yet left-right dominance consists of transverse, vertical, and sagittal components. The aim of the present study was to describe three-dimensionally facial left-right dominance in individuals with an operated complete unilateral cleft lip and palate on the left side (LUCLP), on the right side (RUCLP), and in individuals without craniofacial anomalies (controls). Using stereophotogrammetry, three-dimensional coordinates for 16 bilateral and 10 midsagittal facial landmarks were determined for the LUCLP group (N=32), the RUCLP group (N=17), and the control group (N=80). Left-right dominance was measured in three directions. Individuals without craniofacial anomalies showed a facial left sided dominance in the transverse direction, a facial right sided dominance in the sagittal direction, and no particular dominated side in the vertical direction. Individuals with a unilateral cleft lip and palate demonstrated a facial dominance of the nonaffected side in the vertical direction as well as in the sagittal direction, with no particular side dominant in the transverse direction. Generally, there was more variation in left-right dominance within the face in the vertical and sagittal directions.
Phenotypic Variation in Acrocephalosyndactyly Syndromes: Unusual Findings in Patient with Features of Apert and Saethre-Chotzen Syndromes
Authors: Cantrell Stephen B. , Moore Mark H. , Trott James A. , Morris Robert J. , David David J.
Published: October 2018

The acrocephalosyndactyly syndromes have presented diagnostic challenges because of overlap in their clinical manifestations. We present a patient with features most suggestive of Apert syndrome, but with a pattern of syndactyly not previously described. In contrast to the complex syndactyly reported as a universal feature of this syndrome, this patient shows close to total simple syndactyly of the index through ring fingers of each hand. Differential diagnoses are discussed. Because the features are reminiscent of Apert syndrome, we suggest that a new classification of hand morphology should be added to include the pattern described here.
Acoustic Rhinometric Measurements of Changes in Velar Positioning
Authors: Seaver Earl J. , Karnell Michael P. , Gasparaitis Arunas , Corey Jacquelynne
Published: October 2018

Acoustic rhinometry as a means to detect changes in velar position was examined in this study. Videofluoroscopic recordings were made of two normal speakers maintaining velopharyngeal open and velopharyngeal closed (silent /f/) targets. Simultaneous acoustic rhinometric recordings were made during the production of each stimulus. Determinations of changes in velar positioning during the closed samples were made from fluoroscopic recordings and compared to nasal cavity-nasopharynx changes detected by rhinometry. The excellent agreement between the measures from the two procedures (less than 1 cm) indicates that acoustic rhinometry is capable of detecting changes in velar positioning during “silent” speech. Implications for assessment and future research are discussed.
Longitudinal Study on the Changes of Maxillary Arch Dimensions in Japanese Children with Cleft Lip and/or Palate: Infancy to 4 Years of Age
Authors: Honda Yasuo , Suzuki Akira , Ohishi Masamichi , Tashiro Hideo
Published: October 2018

The focus of this study was an analysis of maxillary arch growth changes prior to the time of cheiloplasty up to 4 years of age. Serial dental casts were obtained and measured in 95 children with cleft lip and palate, or both: 7 unilateral cleft lip and alveolus (CLA), 52 unilateral cleft lip and palate (UCLP), 24 bilateral cleft lip and palate (BCLP), and 12 isolated cleft palate (CP). The children were treated at the Kyushu University Dental Hospital. The results are as follows: (1) Prior to cheiloplasty, the maxillary buccal segments in the subjects with cleft lip and palate showed lateral displacement. The premaxilla in BCLP subjects was protruded. (2) Cheiloplasty influenced maxillary anterior arch width, but not posterior width. The operation caused posterior displacement of the premaxilla in BCLP subjects. (3) Palatoplasty affected the growth of the maxillary arch in the transverse and anteroposterior dimensions. (4) A variety of growth patterns observed in the patients (e.g., increasing or decreasing of the maxillary arch dimensions) suggests that maxillary arch dimensions were affected not only by surgery, but also by other individual factors such as genetic facial pattern and severity of the cleft.
Growth of the Cranial Vault in Rabbits with Congenital Coronal Suture Synostosis
Authors: Burrows Annie M. , Mooney Mark P. , Smith Timothy D. , Wolfgang Losken H. , Siegel Michael I.
Published: October 2018

Craniofacial growth data from craniosynostotic children have shown that suture immobilization results in predictable restrictions of cranial vault growth in a direction perpendicular to the affected suture and compensatory growth at sutures perpendicular to the affected one. This study tests these predictions by using rabbits with nonsyndromic congenital coronal suture synostosis. Data were collected from 96 rabbits divided into three groups: 42 unaffected litter mate controls, 33 partially synostosed rabbits, and 21 completely synostosed rabbits. Markers were placed bilaterally on either side of the vault sutures at 1.5 weeks of age. Serial radiographs were taken at 1.5, 6, 12, and 18 weeks of age for assessment of growth at the vault sutures and of various cranial landmarks. Results revealed that completely synostosed animals had significantly (p <.05) shorter cranial vaults, reduced growth at the coronal suture, and increased growth at the sagittal, frontal, and squamosal sutures compared with unaffected rabbits. Results also showed that the calvarial growth observed in this craniosynostotic rabbit model closely reflects predicted compensatory patterns seen in human clinical populations and that this rabbit model is valuable for understanding the pathogeneses and craniofacial growth patterns of humans with premature cranial suture synostosis.
Ethical Issues in the Case of Surgical Repair of Cleft Palate
Authors: Berkowitz Samuel
Published: October 2018

There are some advantages to prospective randomized clinical trials (PRCT) to resolve some limited clinical problems. But, when this method is used to determine the best surgical procedure to close the palatal cleft space, there are strong ethical considerations that cannot be overcome. There are two basic problems. The first is having the surgeon perform surgical procedures which he/she does not believe is the treatment of choice or that can be performed as skillfully as others, even after demonstrations. Secondly, this method does not consider the theoretical aspect that many clefts within the same cleft type are different in the relative size of cleft space to size of soft tissue available for closing the cleft space, thereby creating different degrees of scarring. Different outcomes to the same surgery must, therefore, result irrespective of the surgeons’ skills or treatment plans. Retrospective research studies, whether they involve one or more institutions, have been and are still very valuable in improving the knowledge base of all areas of cleft palate habilitation.
Relationships between Integrated Oral-nasal Differential Pressure and Velopharyngeal Closure
Authors: Hinton Virginia A. , Warren Donald W.
Published: October 2018

Oral-nasal differential pressures are derived measures that incorporate both active (e.g., articulatory) and passive (e.g., nasal structure) components. This study was designed to examine integrated oral-nasal differential pressures in speakers with different levels of velopharyngeal closure. Integrated oral-nasal differential pressure data were obtained from 20 non cleft adults with normal speech and 166 speakers with repaired palatal clefts. Velopharyngeal competency for the cleft subjects, as determined by aerodynamic assessment, ranged from adequate to grossly incompetent. Results of the data analysis indicate that integrated pressures are not maintained at a consistent level across all groups. This lack of consistency across all degrees of velopharyngeal opening may reflect the flexibility, as well as structural limitations, of a speech pressure regulating system.
Skeletal Asymmetries of the Nasomaxillary Complex in Noncleft and Postsurgical Unilateral Cleft Lip and Palate Individuals
Authors: Kyrkanides Stephanos , Bellohusen Ron , Subtelny J. Daniel
Published: October 2018

Asymmetries in the nasomaxillary skeleton are very common in individuals with unilateral cleft lip and palate. The purpose of this study was to retrospectively evaluate postsurgical asymmetries of the nasomaxillary skeleton in unilateral cleft lip and palate patients. Included in this study were 36 complete cleft lip and palate subjects, along with 36 noncleft (control) subjects. Skeletal asymmetry, deviations of the anterior nasal spine, and the premaxillary area were compared by chronologic age and skeletal maturation in cleft subjects and controls. Comparison between cleft and control cases was assessed. Results indicated that skeletal asymmetry in unilateral clefts and controls peaks during the pubertal growth spurt. The anterior nasal spine and nasal septum always tend to deviate toward the noncleft side of the nasal cavity, although individual variation exists. Cleft subjects were found to be more asymmetric than noncleft subjects to a statistically significant degree.
Longitudinal Study on Three-Dimensional Changes of Facial Asymmetry in Children between 4 to 12 Years of Age with Unilateral Cleft Lip and Palate
Authors: Ras Frank , Habets Luc L.M.H. , Van Glnkel Floris C. , Prahl-Andersen Birte
Published: October 2018

The purpose of the present study was to describe three-dimensional developmental changes of facial asymmetry in children with an operated complete unilateral cleft lip and palate (UCLP) and in children without craniofacial anomalies (controls). Using stereophotogrammetry, three-dimensional coordinates for 16 bilateral and 10 midsagittal facial landmarks were determined for the UCLP group (n = 33) and the control group (n = 63) on two occasions. In this mixed-longitudinal study, the children were 4 to 12 years of age. Facial asymmetry and left-right dominance was measured and resolved for transverse, vertical, and sagittal components. Significant effects were analyzed with multivariate analyses of variance (MANOVA). We concluded that individuals with complete unilateral cleft lip and palate, as well as individuals without craniofacial anomalies, show an increase, during growth, in the amount of facial asymmetry in the basal region of the nose. In the region that is related to the cleft, children with complete unilateral cleft lip and palate do not show changes in the amount of facial asymmetry between the occasions. Regarding facial left-right dominance and variation in dominance, no demonstrable growth changes take place in individuals with complete cleft lip and palate, nor in individuals without craniofacial anomalies.
Resource Allocation, Health Policy, and Rationing Craniofacial Care
Authors: Strauss Ronald P.
Published: October 2018

The United States allocates health care without an overt system of rationing. This article analyzes the forces that guide resource allocation to craniofacial care. Various possible allocation systems are reviewed for how decision makers might evaluate proposed programs for legislative funding. Using a case-based exercise, readers are asked to weigh the potential costs and benefits of six health and social programs. These programs are also systematically examined for factors that are likely to affect resource allocation decisions. Eleven factors that affect decision-making are utilized in the analysis, ranging from the cost per client, to emotional or human interest content, of the proposed programs. Decisions about preventive programs are compared with those involving therapeutic programs. The allocation of resources to craniofacial programs, including those for children with rare major craniofacial conditions, is considered in the context of social justice and broad contemporary ethical and health care delivery issues.
Pressure-Flow Differences in Performance during Production of the CV Syllables Ipil and Ipal
Authors: Smith Bonnie E. , Guyette Thomas W.
Published: October 2018

Inconsistencies in velopharyngeal function were observed to have been reported in presure-flow reports. This article introduces our findings from a sample of pressure-flow records and discusses possible implications for management. A retrospective review of the pressure-flow records for 51 patients was completed. All patients had been evaluated at the Craniofacial Center, University of Illinois at Chicago. Records were selected based on the following criteria: patients were referred for evaluation of velopharyngeal function and had no secondary surgeries on the velopharyngeal mechanism, no fistulae, no neurologic disorders, and no compensatory articulations. At the time of testing, patients ranged in age from 4 to 38 years with most being under 18 years of age. Velopharyngeal orifice areas were obtained using the pressure-flow technique during repeated CV syllables, including Ipil and Ipal. Our results show that 8 of 51 patients exhibited a specific type of inconsistent velopharyngeal function (i.e., they exhibited velopharyngeal closing during Ipal repetitions, but had openings during Ipil repetitions). The reverse finding was not observed among any of the 51 patients. We concluded that the velopharyngeal incompetence observed during utterances involving IiI may have been due to the downward pull on the palate of the palatoglossus muscle, which could not be counteracted by the already maximized levator activity in borderline patients.
Three-Dimensional Comparison between the Palatal Forms in Infants with Complete Unilateral Cleft Lip, Alveolus, and Palate (UCLP) with and without Hotz's Plate
Authors: Mishima Katsuaki , Sugahara Toshio , Mori Yoshihide , Sakuda Masayoshi
Published: October 2018

A three-dimensional measuring system was developed to analyze changes in palatal forms of UCLP infants. This system quantified the change of the curved surface on a palate by automatically superimposing two wireframe models obtained from casts at different stages of growth. It also analyzed the curvature of the palatal surface. This system was used to study the palates of 20 infants with unilateral cleft tip and palate (UCLP), from the first to fourth months after birth (12 with Hotz's plate and 8 without, selected at random). Both major and lesser maxillary segments without Hotz's plate remained anterior and lateral although those with Hotz's plate moved mesially during the fourth month after birth. In addition, the degrees of curvature on the palatal surfaces with Hotz's plate were less than those without Hotz's plate.
Acute Obstructive Sleep Apnea as a Complication of Sphincter Pharyngoplasty
Authors: Witt Peter D. , Marsh Jeffrey L. , Muntz Harlan R. , Marty-Grames Lynn , Watchmaker Greg P.
Published: October 2018

This report describes postoperative airway compromise following sphincter pharyngoplasty (SP) for treatment of post-palatoplasty velopharyngeal dysfunction. A retrospective review of 58 SPs performed for post-palatoplasty velopharyngeal dysfunction, on 30 male, and 28 female patients, over a 5-year study period was undertaken at a tertiary referral academic institution (Washington University School of Medicine), at the St. Louis Children's Hospital, Cleft Palate and Craniofacial Deformities Institute. Eight patients were identified who had the following inclusion criteria: overt perioperative and/or postoperative airway dysfunction, identifiable syndromes, or microretrognathia. Items reviewed were patient demographic factors, associated medical problems, genetics evaluations, nasendoscopic characteristics of velopharyngeal closure, anesthetic evaluation of the patients, and the incidence and severity of perioperative complications. Particular attention was paid to factors contributing to the airway obstruction. Of the eight subjects with perioperative and/or postoperative upper airway dysfunction following SP, five patients had Pierre Robin sequence/micrognathia, while three patients had a history of perinatal respiratory and/or feeding difficulties without micrognathia or an identified genetic disorder. All but two episodes of airway dysfunction resolved within 3 days postoperatively. These patients were discharged home with apnea monitors; both were readmitted with recurrent airway dysfunction. Continuous positive airway pressure (CPAP) was utilized successfully in all instances, and no patients required take-down of the SP to relieve airway dysfunction. CPAP is an effective, noninvasive treatment strategy for management of iatrogenically induced apnea following SP, without sacrificing the surgical benefit of improved speech intelligibility.
Orbital Dysmorphology in Unilateral Coronal Synostosis
Authors: Lo Lun-Jou , Marsh Jeffrey L. , Kane Alex A. , Vannier Michael W.
Published: October 2018

Unilateral coronal synostosis (UCS) produces overt craniofacial dysmorphology. UCS surgery in infancy aims to release the osseous restriction and normalize the fronto-orbital deformity. The quantitative effect of this surgery on the orbit and its contents is unknown. This study was conducted to quantify the preoperative orbital dysmorphology and its surgical outcome in patients with unilateral coronal synostosis. Twenty-eight UCS patients had preoperative three-dimensional computerized tomographic (CT) scans (at mean age 4.0 months), cranio-orbital reconstructive surgery (at 4.7 months), and postoperative scans (at 18.1 months). The CT data were analyzed using a computer workstation and AnalyzeTM biomedical imaging software. Four measurements were performed on both ipsilateral (same side as synostosis) and contralateral (opposite to synostosis) orbits of each scan: orbital index (OI, 100 × height/width of orbit), orbital cavity volume (OV), ocular globe volume (GV), and ventral globe index (VGI, 100 × globe volume ventral to the anterior surface of orbital cavity/GV). The data were analyzed for statistical significance using Student's t test. Preoperatively, the OI was significantly greater on the ipsilateral than on the contralateral side (113.7 vs. 87.3). There was a significant improvement on both sides of the orbit postoperatively, with ipsilateral 99.1 and contralateral 92.1. However, the difference between both sides remained significant. The OV was smaller in the ipsilateral orbits both pre- and postoperatively, with ipse/contralateral ratios of 95.8 and 95.2, respectively. Importantly, the GV was consistently smaller in the ipsilateral orbits preoperatively, with an ipse/contralateral ratio of 93.3. The ratio increased to 97.1 postoperatively, a statistically significant change. In the ipsilateral orbits, the preoperative VGI was significantly greater. The VGI improved postoperatively. These data indicate that UCS affects the development of the osseous orbit as well as its soft-tissue contents. After cranio-orbital surgery, there is diminution of asymmetry of both the bony orbit and its soft-tissue contents. Partial normalization of orbital dysmorphology occurred during the first postoperative year. UCS surgery in infancy does not prevent growth of orbital hard or soft tissues, and it seems to permit normalization of previously impaired growth.
Presurgical Anxiety Treated with Cognitive Behavioral Therapy in a 13-Year-Old Female with Cleft Lip and Palate: A Psychological Case Report
Authors: Whitehead Tanya D. , Tobiasen Joyce M. , Hiebert John M.
Published: October 2018

This case report describes presurgical anxiety in a 13-year-old female with complete cleft lip and palate, treatment of the anxiety with cognitive-behavioral therapy and progressive relaxation with biofeedback prior to a septorhinoplasty, and the treatment outcome.
Cleft Lip Micronostril: The Problem and Proposed Solution
Authors: Loftus Jean M. , Neale Henry W.
Published: October 2018

Micronostril is a cicatricial stenosis that may occur in the caudal-most portion of the nasal cavity of cleft lip patients. This stenosis can be severe and functionally debilitating. Previously proposed solutions have offered disappointing results. Our solution has three key elements: adequate scar release; restoration of the lining and support by way of chondrocutaneous composite graft; and postoperative custom acrylic splinting.
Genetics of Nonsyndromic Oral Clefts Revisited
Authors: Wyszynski Diego F. , Beaty Terri H. , Maestri Nancy E.
Published: October 2018

Nonsyndromic oral clefts are among the most common birth defects, affecting approximately 1 in 1000 Caucasian newborns. In recent decades, many investigators have used genetic and epidemiologic methods to identify etiologic factors, but results have often been inconclusive or contradictory. Etiologic heterogeneity is undoubtedly a major component in these birth defects, and there may not be a single answer to this problem. Here, we describe the main features of published studies pointing out their strengths and limitations. Additionally, we give insight into current methods for detecting the presence of interaction between genetic markers and environmental exposures in the etiology of oral clefts.
Mandibular Dysmorphology in Unicoronal Synostosis and Plagiocephaly without Synostosis
Authors: Kane Alex A. , Lo Lun-Jou, , Vannier Michael W. , Marsh Jeffrey L.
Published: October 2018

Patients with unicoronal synostosis (UCS) or plagiocephaly without synostosis (PWS) have distinctive skull dysmorphologies. Associated mandibular dymorphologies have been suspected but not quantified. This study was performed to test the hypothesis that discrete mandibular dysmorphology exists in both UCS and PWS. All patients at a tertiary referral center at a medical school-affiliated children's hospital with confirmed diagnosis of UCS or PWS with adequate pretreatment CT data were included in the study population, which population was comprised of 20 UCS, 23 PWS, and 8 normal infants. Each patient had a head CT scan using 2-mm slices. 3-D images were created using AnalyzeTM, a biomedical imaging program. The mandibles were isolated, and the coordinates of 8 landmarks were sampled from each mandible by a single investigator: a single volume value was measured, and 9 linear distances and 4 angles were calculated. Corresponding measurements from each hemimandible were expressed as ratios of ipsilateral/contra lateral side. In UCS, the affected side was defined as the side ipsilateral to the synostosis; in PWS, the affected side was defined as the side ipsilateral to the occipital flattening. The results from both groups were t tested for statistical significance. For UCS, statistically significant (p < .001) findings included: ipsilateral hemimandibular volume 5% smaller than contralateral; affected hemimandibular body length 1.9% shorter; affected gonial angle 2.6% more acute; affected coronoid process tilted anteriorly 2.5%; and distances from condylion and tip of the coronoid process to the chin landmarks 4% shorter on the affected side. For PWS, significant findings included: affected hemimandibular volume 3.8% larger; ramal height 3.5% shorter; mandibular body length 3% longer; and coronoid process tilted anteriorly by 2.3% on the affected side. In the UCS/PWS comparison, findings included: affected hemimandibular volume in UCS 8.7% less; affected gonial angle in UCS 3% more acute; affected mandibular corpus length in UCS 5% shorter; distances from the condylion and the tip of the coronoid process to the chin landmarks 4% shorter on the affected side in UCS. The hypothesized presence of diagnosis specific mandibular dysmorphology in UCS and PWS is confirmed. This analysis forms the baseline for study of the effects of unperturbed growth or therapeutic interventions upon the dentoskeletal dysmorphology of these anomalies.
Audiologic and Otologic Characteristics of Pfeiffer Syndrome
Authors: Vallino-Napoli Linda D.
Published: October 2018

Objective

To examine the prevalence and type of hearing loss and otopathology in patients with Pfeiffer syndrome.

Design

Retrospective and prospective study design.

Setting

A pediatric tertiary care hospital.

Subjects

Nine patients-ranging in age from 2 to 12 years.

Method

Hearing levels and middle ear function were assessed using standard procedures. Otoscopy was also conducted. Computerized tomography (CT) scans of the temporal bone were obtained to study outer, middle, and inner ear anatomy.

Results

Hearing loss was present in eight of the nine patients. The degree of loss varied but was moderate to severe in most patients. Seven patients had conductive hearing loss and one had mixed loss; none had purely sensorineural loss. Four patients had a history of middle ear effusion. Primary CT findings showed stenosis and/or atresia of the external auditory canal, hypoplasia of the middle ear cavity, and an enlarged middle ear cavity. The ossicles were hypoplastic in a few cases. With one exception, inner ear anatomy was normal.

Conclusion

Otologic malformations and hearing loss are features of Pfeiffer syndrome. Major factors contributing to hearing loss were anatomic abnormalities of the external auditory canal and middle ear, which can be identified by computerized tomography. Otitis media was also present and may have caused or contributed to the hearing loss. We recommend that the computerized tomographic study, which is often used to evaluate and plan treatment for the craniofacial skeleton, be extended to include a thorough evaluation of otologic structures In patients with Pfeiffer syndrome.
Clinical and Epidemiologic Studies of Cleft up and Palate in the Philippines
Authors: Murray Jeffrey C. , Daack-Hirsch Sandra , Buetow Kenneth H. , Munger Ronald , Espina Lourdes , Paglinawan Nena , Villanueva Edith , Rary John , Magee Kathy , Magee William
Published: October 2018

Clinical and epidemiologic studies of defined geographic populations can serve as a means of establishing data important for genetic counseling and as a first step in Identifying strategies best suited for Identification of causes. Under the sponsorship of Operation Smile International, clinical, genetic, and epidemiologic studies were carried out at six sites within the Philippines between 1989 and 1996. Patients who were being evaluated for surgical repair of craniofacial anomalies (primarily clefts of the lip and palate) were briefly examined for the presence of associated anomalies, and a family history was obtained to look for the frequency of cleft lip and palate in siblings. Birth records of 47,969 newborns born over an 8-year period at one hospital in Bacolod City in the province of Negros Occidental were reviewed. Medical records of infants born with clefts of the lip and/or palate and other major anomalies were reviewed and birth prevalence rates calculated. Findings include a birth prevalence of 1.94 per 1000 live births for cleft lip with/without palate in the Philippines. Recurrence rates in siblings for nonsyndromic clefts of the lip and palate were 23 per 1000 for cleft lip with or without cleft palate, and 14 per 1000 for cleft palate only. The percentage of clefts associated with multiple anomalies was 21% at birth and 6% for individuals examined during the screening process, providing evidence for a high postnatal death rate. These data provide groundwork for additional etiologic studies including segregation analysis and molecular genetic studies involving linkage or association, as well as for studies of environmental contributions to clefting such as vitamin deficiencies. Preliminary molecular analysis using an association approach is reported in a companion paper. The findings suggest a high incidence of cleft lip and palate in native-born Filipinos.
Maternal Smoking and Orofacial Clefts
Authors: Källén Karin
Published: October 2018

To investigate a possible association between maternal smoking during pregnancy and oral clefts, a study was conducted using Swedish health registries. Infants with oral clefts (N = 1834) were selected among 1,002,742 infants born between 1983 and 1992 with known smoking exposure in early pregnancy. Confounders such as maternal age and parity were controlled for by using the Mantel-Haenszel technique. A statistically significant association with maternal smoking was found. The odds ratio (OR) for any maternal smoking among cases of cleft lip with or without cleft palate [CL(P)] was 1.16 (95%CI: 1.02–1.32). For cases of cleft palate alone (CP), the corresponding OR was 1.29 (95%CI: 1.08–1.54). The results of the present study, based on the largest series of oral cleft cases published to date, indicate that cigarette smoking during pregnancy is associated with increased risks of CL(P) and CP.
The Cervical Spine in Saethre-Chotzen Syndrome
Authors: Anderson Peter J. , Hall Christine M. , Evans Robert D. , Hayward Richard D. , Harkness William J. , Jones Barry M.
Published: October 2018

Twenty patients with a diagnosis of Saethre-Chotzen syndrome had their cervical spine radiographs reviewed. Radiologic abnormalities including vertebral fusion were present in 9 of the 20 patients. Fusion of both the vertebra! bodies and the posterior elements was noted, although the latter site was more common. C2–3 was the level most commonly involved, although other levels were recorded. Analysis of sequential radiographs in nine patients revealed evidence of progression In seven patients. In those studies in children aged under 2 years, only 1 of 18 films showed evidence of fusion, while in those over 2 years of age, 10 of 12 showed evidence of fusion. These results reveal that the incidence of cervical anomalies in Saethre-Chotzen syndrome is greater than that in the general population. There is both direct and indirect evidence that the vertebral fusions are progressive during childhood.
Isolated Maxillary Bending in CL/Fr Strain Mice: Observation of Craniofacial Deformity and Inheritance Pattern
Authors: Nagata Masaki , Amin Md. Nurul , Kannari Yoji , Hayatsu Makoto , Ohashi Yasushi , Oguro Akira
Published: October 2018

Objective

The CL/Fr mouse, known as a strain with spontaneous cleft lip and/or palate (CL/P), has been used as an animal model to investigate etiology in CL/P.

Method

We examined a facial asymmetry mutant discovered in a CL/Fr mouse colony that was not associated with CL/P and was shown to be inheritable in subsequent generations. Facial asymmetry became apparent with postnatal growth, whereas it was not detectable at birth, and was termed “maxillary bending” (MB) based on the characteristic bending of the maxilla.

Results

As a result of selective breeding, an ‘MB line,’ in which MB was observed in 21.68% (67/309) in addition to CL/P in 17.80% (55/309) of the offspring, was developed in the CL/Fr colony. In mating experiments between the MB line and C57BL/6J, all F1 progeny showed the normal phenotype. MB was observed In 0.72% (1/139) of the F2 generation, and the backcross generation showed segregation of MB in 6.25% (22/352) and CL/P in 1.42% (5/352). These instances suggested the occurrence of an additional mutation in the CL/Fr mouse genome controlled by an autosomal recessive gene with low penetrance. However, since the CL/Fr mouse primarily has a developmental deficiency in the maxilla, the possibility that CL/P and MB share common etiologic factors cannot be completely ruled out.

Conclusion

The maxillary bending retains significance, as this mutant can serve as an animal model of abnormal facial growth. Elucidation of the etiologic relationship between MB and CL/P may provide clues to clarifying the deficiency in first branchial arch In the mouse.
Airway Management in Children with Craniofacial Anomalies
Authors: Perkins Jonathan A. , Sie Kathleen C.Y. , Milczuk Henry , Richardson Mark A.
Published: October 2018

Craniofacial anomalies (CFA) predispose children to airway obstruction. A retrospective study was conducted to describe airway intervention required to manage patients with craniofacial syndromes and diseases involving the midface and mandible (i.e., Pierre Robin, Apert, Treacher Collins, Saethre-Chotzen, CHARGE, Nager, Stickler, Goldenhar, and Pfeiffer). The type of airway intervention, duration of Intervention, and associated physical and medical conditions were evaluated. One hundred nine patients had charts available for review and met Inclusion criteria. Sixty-five of these patients required airway management, most commonly in the first month of life, ranging from positioning to tracheotomy. Nineteen patients required a tracheotomy. Associated medical conditions and feeding difficulties were associated with airway obstruction. This study evaluates factors that predispose children with CFA to have airway problems that need treatment, as well as the types of airway management that are necessary.
Magnetic Resonance Angioplasty for Prepharyngoplasty Assessment in Velocardiofacial Syndrome
Authors: Krugman Mark E. , Brant-Zawadski Michael
Published: October 2018

Objective

The assessment of the posterior pharyngeal vasculature In velocardiofacial syndrome has been traditionally based on endoscopic visualization of pulsations or conventional angiography. This case report describes the utility of presurgical imaging with magnetic resonance angiography (MRA) prior to performing pharyngoplasty.

Conclusion

The use of the MRA data presurgically is an effective way to prevent bleeding complications during pharyngoplasty.
Use of an Osseointegrated Implant for Dental Rehabilitation after Cleft Repair by Periosteoplasty: A Case Report
Authors: Takahashi Tetsu , Fukuda Masayuki , Yamaguchi Tai , Kochi Shoko , Inai Tetsuji , Watanabe Makoto , Echigo Seishi
Published: October 2018

Objective

We report here on a patient with unilateral cleft lip and alveolus who underwent dental rehabilitation of cleft alveolus using an osseointegrated implant after cleft repair by periosteoplasty. The patient, whose lateral Incisor was congenially missing, had periosteoplasty, followed by excellent bone formation at the cleft alveolus within 2 years. After the completion of orthodontic alignment of the maxillary dental arch, a Brånemark single-tooth Implant was placed Into the bone-formed alveolus.

Conclusion

This treatment procedure offers an option of dental rehabilitation for the alveolar clefts of patients with cleft lip and/or palate.
Continuity of Care: University of Iowa Cleft Lip/Palate Interdisciplinary Team
Authors: Canady John W. , Means Mary E. , Wayne Ivan , Thompson Sue Ann , Richman Lynn C.
Published: October 2018

Introduction:

Patient satisfaction with the continuity of care is an important aspect of care delivery that may be evaluated to assess team effectiveness. This study was conducted to evaluate the number of patients seen by each team member, and the patients’ perceived importance of continued care by the same health care provider during their overall treatment.

Methods:

A survey was constructed by the members of the Cleft Lip/Palate Team at the University of Iowa Hospitals and Clinics. One hundred and thirty-eight subjects were invited to participate during consecutive clinic days over a 5-month period; 101 subjects (73.1%) responded.

Results:

The survey revealed that the percentage of patients seen by each member of the team ranged from 92.1% (93/101) for the surgeon to 24.8% (25/101) for the genetic counselor. Strong agreement with continuity of care by health professionals ranged from 85.6% (83/97) for the surgeon, 63.7% (58/91) for the orthodontist, 63% (17/27) for the psychologist, to 23.1% (19/82) for the audiologist. The percentages dropped somewhat if the patients thought that they may have to wait longer for their next appointment.

Conclusion:

There is a strong preference for continuity of health care.
Incisor Crossbite and Repaired Unilateral Cleft Lip and Palate: Changes in Jaw Movement and Temporalis Muscle Activity before and after Edgewise Treatment—Case Report
Authors: Miyawaki Shouichi , Takada Kenji
Published: October 2018

Objective:

To examine the changes in jaw movement and temporalls muscle activity of a patient with unilateral cleft lip and palate before and after edgewise treatment.

Design:

Clinical case study.

Setting:

University dental hospital, department of orthodontics.

Patient:

A 12-year 3-month-old male with incisor crossbite, molar malocclusion, and repaired unilateral cleft lip and palate who had completed first-phase orthodontic treatment.

Main Outcome Measures:

This patient was treated with an edgewise appliance. Jaw movement and temporalls muscle activity during the chewing of a hard gummy jelly were recorded at 2 kHz from the sixth to the twentieth stroke before edgewise treatment and after a retention period of 2 years.

Results:

Optimum intercuspation of teeth was achieved. The reversed crossing jaw-movement pattern before treatment changed to a normal grinding after treatment. The posterior temporalis muscle on the chewing side exhibited an earlier burst than the contralateral one during chewing at the post-treatment stage, as is observed in cases with good occlusion.

Conclusion:

Improved in the occlusion using an edgewise appliance is necessary for acquiring a good masticatory function in patients with incisor crossbite, molar malocclusion, and cleft lip and palate.
Unilateral Cleft Lip with or without Cleft Palate and Handedness: Is There an Association?
Authors: Daskalogiannakis John , Kuntz Kari L. , Chudley Albert E. , Ross R. Bruce
Published: October 2018

Objective

The purpose of this study was to investigate the possibility of a relationship between the side of occurrence of unilateral clefting of the lip and/or palate and handedness, also taking into account the type of the initial cleft condition, a factor that has not been adequately assessed in previous studies.

Design

This was a retrospective study.

Setting

Division of Orthodontics, The Hospital for Sick Children, Toronto, Canada, and Cleft Lip and Palate Program, Children's Hospital, Winnipeg, Canada.

Participants

Subjects were 289 patients (176 males and 113 females) 9 years of age or older presenting with a history of unilateral clefts of the lip with or without the palate. Of these patients, 217 were recruited from the patient pool of the Orthodontic Clinic at the Hospital for Sick Children in Toronto. The remaining 72 were selected from the registry of the Cleft Lip and Palate Program of the Children's Hospital in Winnipeg. Any syndromic cases were excluded from the sample.

Main outcome Measures

Assessment of handedness was performed by asking the patients to fill out a multi-item questionnaire in which patients were asked to identify which hand they would use for different tasks. The side and type of the initial cleft condition were identified by reviewing each patient's hospital chart and by cross-referencing with clinical examination. Statistical evaluation of the results was performed by using the chi-square test.

Results

There was a significantly larger number of left-sided clefts (198) in the sample than right-sided clefts (91), (p < .001). The proportion of left-sided clefts among left-handers (84.6%) was higher than that among right-handers (66.8%). However, the relationship between side of cleft and handedness was not statistically significant (p = .185). Clefts of the primary palate only seemed to occur on the left side 3.5 times more often than on the right, whereas the corresponding ratio of left:right manifestation for clefts of the primary and secondary palate was 1.8:1. The difference was statistically significant (p < .05).

Conclusion

The findings of this study confirm the affinity of unilateral clefts for the left side but suggest that there are differences between clefts of the primary palate only and clefts of the primary and secondary palate. Also, non-right-handed patients show a greater predilection for having a cleft on the left side than do right-handed patients.
Distribution Patterns of Primary and Permanent Dentition in Children with Unilateral Complete Cleft Lip and Palate
Authors: Tsai Tzong-Ping , Huang Chiung-Shing , Huang Chuan-Chuan , See Lai-Chu
Published: October 2018

Objective

To investigate the distribution patterns of primary and permanent teeth in the cleft area and the numerical variation in teeth in unilateral complete cleft lip and palate (UCLP) patients.

Design

A survey of the dentition in UCLP patients.

Setting

Craniofacial Center, Chang Gung Memorial Hospital, Taipei, Taiwan.

Patients

137 UCLP patients who met the following criteria: (1) have had at least one panoramic film taken, (2) the first panoramic film illustrates either primary or early mixed dentition. Evaluation of both permanent and primary dentition was available in 91 cases.

Main Outcome Measures

Two evaluators performed independent evaluations of number and distribution of teeth in UCLP patients. The hypothesis that there are two odontogenic origins for maxillary lateral incisors was proposed to explain the occurrence of distribution patterns of dentition in the cleft area and to explain differences between primary and permanent dentition in UCLP patients.

Results

Four distribution patterns in the cleft area were identified in both the primary and the permanent dentition. In the primary dentition, placement of the lateral incisor distal to the alveolar cleft was the predominant pattern (pattern y, 82.4%), followed by absence of the cleft side maxillary lateral incisor (pattern ab, 9.9%), presence of one tooth on each side of the alveolar cleft (pattern xy, 5.5%), and placement of the lateral incisor mesial to the alveolar cleft (pattern x, 2.2%). In the permanent dentition, the most common pattern was the absence of the maxillary lateral incisor on the cleft side (pattern AB, 51.8%), followed by lateral incisor placement distal to the alveolar cleft (pattern Y, 46%), lateral incisor placement mesial to the alveolar cleft (pattern X, 1.5%) and the presence of one tooth on each side of the alveolar cleft (pattern XY, 0.7%). The discrepancy between the distribution patterns of primary dentition and permanent dentition successors is 57.1%. Variations in tooth number in both primary and permanent dentition of UCLP patients occurred most often in the cleft area. Abnormalities in the number of teeth (hypodontia or hyper-dontia) outside the cleft area were more common in the permanent dentition than in the primary dentition (24.1% versus 4.4%).

Conclusions

Four distribution patterns in the cleft area were identified in both sets of dentition. Our findings of distribution patterns in UCLP patients support the hypothesis that there may be two odontogenic origins for maxillary lateral incisors. Clinicians involved in managing the dentition of UCLP patients should consider the high frequency of numerical variation both in and outside the cleft area before starting dental treatment.
Characteristics of Jaw Growth in Cleidocranial Dysplasia
Authors: Ishii Kazuhiro , Nielsen Ib Leth , Vargervik Karin
Published: October 2018

Objective

The purpose of this pilot study was to assess craniofacial morphology in young and adult individuals with cleidocranial dysplasia (CCD).

Design

Craniofacial morphology in young individuals (primary dentition) and in young adults was compared with control data using ratios and angles obtained from lateral head films.

Setting

The CCD individuals were referred to the Center for Craniofacial Anomalies for diagnostic workup and treatment recommendations.

Subjects

The sample consisted of 14 Caucasians. The inclusion criterion for the young, prepubertal group (A) was complete primary dentition, and for the adult, postpubertal group (B), the eruption of all four first molars was required.

Interventions

No treatment other than extraction or surgical removal of selected primary or supernumerary teeth was performed.

Results

Both groups showed significantly smaller anterior upper face height compared with controls. Group B subjects demonstrated significantly smaller face height values than the controls in the A point-nasion-B point (ANB) angle, facial axis, mandibular plane angle, palatal plane/mandibular plane angle, and gonial angle. No significant differences were found between group A individuals and the controls for these measurements. The older group had shorter anterior lower face height compared with both anterior upper face height and posterior lower face height.

Conclusions

Whereas young CCD subjects showed relatively normal jaw proportions and morphology of the mandible, older CCD individuals tended to have short lower face height, acute gonial angle, anterior inclination of the mandible, and mandibular prognathism. These differences can be attributed to pronounced horizontal mandibular growth resulting from lack of vertical maxillary growth and impaired eruption of permanent teeth.