bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hypoplasia and Hypodontia in Van der Woude Syndrome
Authors: Oberoi Snehlata , Vargervik Karin 
Published: September 2005

Objective The purpose of this study was (1) to assess maxillary development in cleft individuals with Van der Woude syndrome (VWS) and (2) to compare hypodontia in VWS and nonsyndromic cleft matched controls. Design and Setting Retrospective case-control study from the Center for Craniofacial Anomalies, University of California, San Francisco, California. Patients and Participants The sample consisted of 15 individuals with Van der Woude syndrome and 15 nonsyndromic cleft lip and/or palate controls paired for age, gender, and cleft type in the age range of 5 to 13 years. Main Outcome Measures Cephalograms were digitized, and 31 linear and angular measurements were made. Serial panoramic radiographs were used to assess the presence or absence of permanent teeth. Results The maxillary sagittal position represented by midface length (Co-A) was significantly shorter in the Van der Woude syndrome subjects than in the matched controls (p = .031), suggesting a trend towards greater maxillary hypoplasia, particularly in Van der Woude syndrome with bilateral cleft lip and/ or palate. Measurements indicating sagittal jaw relationship (ANB angle and the Wits) were significantly smaller in the children with Van der Woude syndrome than in matched controls (p = .008 and p = .006). A significantly larger number of individuals with Van der Woude syndrome than matched controls had missing teeth (p = .014). The mandibular second premolar was missing more frequently in children with Van der Woude syndrome than in the matched controls (p = .031). The differences concerning both maxillary hypoplasia and hypodontia were most marked in the more severe cleft type, represented by bilateral cleft lip and/or palate. Conclusions Based on these findings, the expectation is that there will be maxillary hypoplasia and hypodontia of greater severity in Van der Woude syndrome than in nonsyndromic clefts.
Dental Development of the Permanent Lateral Incisor in Patients with Incomplete and Complete Unilateral Cleft Lip
Authors: Pioto Nádia Rodrigues , Costa Beatriz , Gomide Marcia Ribeiro 
Published: September 2005

Objective This study aimed to evaluate a possible delay in root development of the permanent lateral incisor on the cleft side compared with its contralateral tooth in patients with incomplete and complete unilateral cleft lip. Design Retrospective. Setting Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil. Patients A sample of 95 panoramic radiographs of patients with incomplete and complete unilateral cleft was obtained from the files of HRAC/USP. The patients were both boys and girls of various races, aged 5 to 11 years, and did not have any syndrome or associated congenital malformation. The sample was divided into three groups according to the severity of the cleft lip. Main Outcome Measure Radiographs were analyzed to compare root development stage of the lateral incisor on the cleft side with the noncleft side according to the classification of Nolla. Results The mean delay in root development of the permanent lateral incisor on the cleft side ranged from 0.5 to 1.6 scores for all three groups investigated. Conclusions Root development of the permanent lateral incisor on the cleft side was delayed compared with the noncleft side.
Quantification of Plagiocephaly and Brachycephaly in Infants Using a Digital Photographic Technique
Authors: Hutchison B. Lynne , Hutchison Luke A. D. , Thompson John M. D. , Mitchell Ed A. 
Published: September 2005

Objectives The aims of the study were: (1) to develop a technique to quantify plagiocephaly that is safe, accurate, objective, easy to use, well tolerated, and inexpensive; and (2) to compare this method with tracings from a flexicurve ruler. Design A case-control study of 31 case infants recruited from outpatient plagiocephaly clinics and 29 control infants recruited from other pediatric outpatient clinics. Participants Infants in the study had been diagnosed with nonsynostotic plagiocephaly or brachycephaly and were between 2 and 12 months old. Interventions Infants’ head shapes were measured using (a) digital photographs of a head circumference band and (b) a flexicurve ruler. Flexicurve tracings were scanned, and both the digital photos and the scanned flexicurve tracings were analyzed using a custom-written computer program. Main Outcome Measures The oblique cranial length ratio was used to quantify cranial asymmetry, and the cephalic index was used to quantify the degree of brachycephaly. Results The infants tolerated the photo technique better than the flexicurve. Also, mothers preferred the photo technique. There was less within-subject variance for the photos than for the flexicurve measurements. The results suggested that an oblique cranial length ratio of ≥ 106% can define plagiocephaly and that a cephalic index of ≥ 93% can define brachycephaly. Conclusions The photographic technique was better accepted and more repeatable than the flexicurve measuring system. We propose that “normal” head shape is indicated in infants with both an oblique cranial length ratio of less than 106% and a cephalic index of less than 93%.
Parenting Stress in Infancy and Psychosocial Adjustment in Toddlerhood: A Longitudinal Study of Children with Craniofacial Anomalies
Authors: Pope Alice W. , Tillman Karen , Snyder Heather T. 
Published: September 2005

Objective To evaluate the association between parenting stress during infancy and child psychosocial adjustment during toddlerhood, within a sample of children with craniofacial anomalies (CFAs). Design Retrospective chart review. Setting Urban medical center department of reconstructive plastic surgery. Participants Parents of 47 children aged birth to 24 months at time 1 and 24 to 46 months at time 2. Main Outcome Measures Parenting Stress Index/Short Form completed at times 1 and 2; Child Behavior Checklist completed at time 2. Results Relative to norms, more parents of children with CFAs experienced serious levels of parenting stress at times 1 and 2; however, fewer children with CFAs experienced serious levels of adjustment problems. Parenting stress during infancy predicted psychosocial adjustment in toddlerhood but was mediated by parenting stress in toddlerhood. Parents high on stress at both assessments showed clinical levels of total parenting stress and parent-child dysfunctional interaction when their children were infants; their toddlers showed higher levels of maladjustment than those with parents elevated on parenting stress during only infancy. Conclusions Elevated levels of parenting stress during infancy may be stable through toddlerhood for families having a child with a CFA. The relation between parenting stress and child adjustment is likely to be reciprocal. These findings should be replicated with a larger sample and multiple informants.
Psychosocial Adjustment in Adolescents with Craniofacial Anomalies: A Comparison of Parent and Self-Reports
Authors: Snyder Heather T. , Bilboul Monica J. , Pope Alice W. 
Published: September 2005

Objective To assess rates of psychosocial adjustment problems in adolescents with craniofacial anomalies (CFAs) and to evaluate the correspondence between adolescent and parent reports of adjustment. Design Retrospective chart review. Setting Reconstructive plastic surgery department in urban medical center. Participants Sixty-four adolescents aged 14 to 18 years with CFAs and their parents. Main Outcome Measures Child Behavior Checklist, Youth Self-Report. Results Adolescent and parent reports were compared with published norms. Adolescents with CFAs did not differ from norms on rates of self-reported problems in the clinical range. Parents of sons and daughters with CFAs reported elevations in the clinical range for deficits in social and scholastic competence; parents of daughters also reported higher clinical rates of withdrawn and somatic problems. Correlations between adolescent and parent reports were generally higher than seen in norms, especially for boys. Parents and adolescents did not differ in reported rates of problems in the clinical range. Conclusions Adolescents with CFAs showed elevated risk for problems with academics and peer relationships; there was limited evidence for clinical levels of other adjustment problems. When parent and adolescent reports differed, parents reported more problems.
Three Cases of Oculo-Facio-Cardio-Dental (OFCD) Syndrome
Authors: Tsukawaki Hiroyuki , Tsuji Michiko , Kawamoto Tatsuo , Ohyama Kimie 
Published: September 2005

Objective Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition with ocular, facial, cardiac, and dental disorders. The purpose of this report is to describe three Japanese female patients by using facial measurements, tooth measurements, and cephalometric analysis. Design Facial measurements, tooth measurements, and the results of cephalometric analyses were compared with Japanese standards using panoramic roentgenograms, dental casts, and lateral cephalograms. Results A long face and thick upper and lower lips were noted for all cases from facial measurements, and a long crown length and long dental root were noted for all cases from tooth measurements. Relative mandibular protrusion and a large anterior lower facial height, accompanied by a steep mandible and large gonial angle, were seen from the cephalometric analyses. Conclusions The results of a long face and long dental root were in accordance with previous reports. In addition, thick upper and lower lips, relative mandibular protrusion, large anterior lower facial height accompanied by a steep mandible, and a large gonial angle may be characterized as specific features of this syndrome.
Community Orthodontists and Craniofacial Care: Results of a Washington State Survey
Authors: Lewis Charlotte W. , Ose Marsha , Aspinall Cassandra , Omnell Mai Lena 
Published: September 2005

Background Little is known about community orthodontists’ previous training in, experience with, or receptivity to caring for children with craniofacial disorders. Objectives (1) To characterize the current level of participation by Washington state orthodontists in craniofacial care; and (2) to identify factors that promote or impede community orthodontists’ involvement in caring for children with craniofacial conditions. Design Mail survey. Methods A 26-item questionnaire was designed and mailed to all active orthodontists in Washington state (N = 230). Question topics included practice characteristics, training and experience with craniofacial conditions, concerns related to public and private insurance, and communication with craniofacial teams. Results Of eligible respondents, 68% completed the survey. Most orthodontists’ patient panels were made up of patients who either have private insurance or pay cash for services. On average, 2% of respondents’ patients were Medicaid beneficiaries. Only 20% of respondents had seen more than three patients with cleft lip and/or palate in the past 3 years. Although a minority of orthodontists receive referrals from (27%) or are affiliated with (11%) craniofacial teams, most orthodontists perceived craniofacial care positively and were interested to learn more about craniofacial care and to accept additional patients with these conditions. Conclusions Results of this survey can inform potential strategies to increase access to orthodontic care for children with craniofacial disorders. These would include developing an organized training, referral, and communication system between community orthodontists and state craniofacial teams and considering a case-management approach to facilitate this process.
Spontaneous Verbal Labeling: Visual Memory and Reading Ability in Children with Cleft
Authors: Richman Lynn C. , Wilgenbusch Tammy , Hall Thomasin 
Published: September 2005

Objective The purpose of this study was to examine different types of short-term memory deficits (visual versus verbal) of children with cleft and to determine what type of memory deficits were associated with reading disorders. Design The study examined memory and reading in 48 consecutive cases of children with cleft, aged 7 to 9 years. A memory test designed to assess memory modalities (verbal-visual) was administered, along with tests of reading ability. Results Visual and verbal memory were examined with a one-way analysis of variance (ANOVA). The memory pattern indicated greatest deficit in visual memory. Two subgroups were formed, according to whether or not there was evidence of visual memory impairment. A hit rate predicting reading disability based on group membership was calculated to be 65%. Visual memory was significantly correlated with reading ability (r = .48). Conclusion A brief visual memory test was almost as good as Full Scale IQ in predicting reading disability.
Treatment Outcome after Two-Stage Palatal Closure in Unilateral Cleft Lip and Palate: A Comparison with Eurocleft
Authors: Nollet Pieter J. P. M. , Katsaros Christos , van't Hof Martin A. , Semb Gunvor , Shaw William C. , Kuijpers-Jagtman Anne Marie 
Published: September 2005

Objective To evaluate dental arch relationships of patients with unilateral cleft lip and palate (UCLP) treated with a two-stage palatal closure and to compare them with the six centers from the Eurocleft study that used various treatment protocols. Design Repeated-measures study. Setting Cleft Palate Craniofacial Unit of Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. Patients Records of 9-year-old children with complete unilateral cleft lip and palate (n = 43) were included. Interventions The dental arch relationships of these patients were assessed by applying the Goslon Yardstick and subsequently compared with the Goslon outcome of the six-center Eurocleft study. Mean Outcome Measures Statistics of intra- and interexaminer agreement. Results For the Nijmegen UCLP group, 9% of dental arch relationships had a Goslon score of 1, 52% had a score of 2, 30% has a score of 3, 9% had a score of 4, and none had a score of 5. The mean Nijmegen Goslon score showed no significant differences with Eurocleft centers A, B, and E, which achieved the best treatment results, but did significantly differ from Goslon outcomes of Eurocleft centers D (p < .001), C, and F (p < .01), which had relatively poor treatment outcome. Conclusions Treatment outcome of the patients in the Nijmegen UCLP group treated with two-stage palatal closure was comparable with the results of the Eurocleft centers with the best outcome. Treatment protocol could not explain differences in the quality of treatment results.
Spinal Anomalies in Goldenhar Syndrome
Authors: Anderson Peter J. , David David J. 
Published: September 2005

Objective Goldenhar syndrome consists of the triad of craniofacial microsomia, occular dermoid cysts, and spinal anomalies. The exact nature of the spinal anomalies remains poorly defined in the existing craniofacial literature, possibly due to these anomalies being managed by orthopedic surgeons rather than by craniofacial surgeons. The aim of this study was to clarify the nature and extent of these spinal anomalies. Method Review of case notes of patients who had their diagnosis confirmed following review by a clinical geneticist and in conjunction with radiographs (supplemented by three-dimensional computed tomographic [CT] scans where available). Results Seven patients fulfilled the entry criteria and had material available for study. A wide range of anomalies was present, including butterfly vertebrae; hemivertebrae, which produced secondary scoliosis; kyphosis; and rib anomalies. Anomalies occurred at all levels within the spine. Conclusion The possibility of spinal anomalies at all levels of the spine should be considered by those treating cases of Goldenhar syndrome, because these anomalies cannot be predicted from the severity of the facial malformation.
Nerve Supply to the Soft Palate Muscles with Special Reference to the Distribution of the Lesser Palatine Nerve
Authors: Shimokawa Takashi , Yi Shuangquin , Tanaka Shigenori 
Published: September 2005

Objective Descriptions of the innervation of the soft palate muscles in previous studies have varied according to the author. In the present study, distribution of the lesser palatine nerve, through which motor fibers of the facial nerve are considered to reach soft palate muscles, and that of the pharyngeal plexus in the soft palate were investigated in order to reexamine the innervation of the soft palate muscles according to anatomical evidence. Results Observations suggested that the levator veli palatini and palatopharyngeus were doubly innervated by branches of the lesser palatine nerve and pharyngeal plexus, and that the musculus uvulae was innervated by only the lesser palatine nerve. Conclusion The soft palate is considered to be located in the border region between the areas of distribution of the lesser palatine nerve and pharyngeal plexus. This may be why controversies exist in previous studies about the innervation of the soft palate muscles.
Molecular study of WISP3 in nine families originating from the Middle‐East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect
Authors: Delague Valérie , Chouery Eliane , Corbani Sandra , Ghanem Ismat , Aamar Suhail , Fischer Judith , Levy‐Lahad Ephrat , Urtizberea J. Andoni , Mégarbané André 
Published: September 2005

AbstractProgressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is caused by mutations of the WISP3 gene located on chromosome 6q22. We hereby report the molecular study of the WISP3 gene in nine unrelated consanguineous families originating from the Middle‐East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD. Five different sequence variations were identified in the WISP3 gene, two of them being new mutations: the c.589G → C transversion at codon 197, responsible for a splicing defect (A197fsX201); and the c.536_537delGT deletion (C179fsX), both in exon 3. In all other families, the affected patients were homozygous for a previously described nonsense mutation, namely c.156C → A (C52X). Interestingly, in the latter families, the C52X mutation was always found associated with a novel c.248G → A (G83E) variation, suggesting the existence of a founder effect. © 2005 Wiley‐Liss, Inc.
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside‐induced and nonsyndromic hearing loss
Authors: Yuan Huijun , Qian Yaping , Xu Yanjun , Cao Juyang , Bai Linna , Shen Weidong , Ji Fei , Zhang Xin , Kang Dongyang , Mo Jun Qin , Greinwald John H. , Han Dongyi , Zhai Suoqiang , Young Wie‐Yen , Guan Min‐Xin 
Published: September 2005

AbstractWe report here on the characterization of a three‐generation Chinese family with aminoglycoside‐induced and nonsyndromic hearing impairment. Ten of 17 matrilineal relatives exhibited bilateral and sensorineural hearing impairment. Of these, nine matrilineal relatives, who had a history of exposure to aminoglycosides, exhibited variable severity and audiometric configuration of hearing loss. The dose and age at the time of drug administration seemed to be correlated with the severity of the hearing loss experienced by affected individuals. Sequence analysis of the complete mitochondrial genome in the pedigree showed the presence of homoplasmic A1555G mutation and 37 variants belonging to haplogroup D4a. Of those variants, the G7444A mutation is of special interest as the mutation at this position results in a read‐through of the stop condon AGA of the COI message, thereby adding three amino acids (Lys–Gln–Lys) to the C‐terminal of the polypeptide. Alternatively, the G7444A mutation is adjacent to the site of 3′ end endonucleolytic processing of L‐strand RNA precursor, spanning tRNASer(UCN) and ND6 mRNA. Thus, the G7444A mutation, similar to the deafness‐associated A7445G mutation, may lead to a defect in the processing of the L‐strand RNA precursor, thus influencing the phenotypic expression of the A1555G mutation. These data also imply that nuclear background plays a role in the aminoglycoside ototoxicity associated with the A1555G mutation in this Chinese pedigree. © 2005 Wiley‐Liss, Inc.
Stickler syndrome: Clinical characteristics and diagnostic criteria
Authors: Rose Peter S. , Levy Howard P. , Liberfarb Ruth M. , Davis Joie , Szymko‐Bennett Y. , Rubin Benjamin I. , Tsilou Ekaterini , Griffith Andrew J. , Francomano Clair A. 
Published: September 2005

AbstractThe purpose of this study was to establish diagnostic criteria for Stickler syndrome. Ninety patients from 38 families had complete evaluations for possible Stickler syndrome. Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome) was available on 25 patients from six families. In the remaining 65 patients, 47 from 25 families were affected with Stickler syndrome and 18 from seven families were unaffected with Stickler syndrome. A diagnostic nosology based on type I Stickler patients with known COL2A1 mutations was applied to clinically affected and unaffected patients. A diagnostic scale of 9 points evaluated molecular data or family history data and characteristic ocular, orofacial, auditory, and musculoskeletal findings. A score of ≥5 was diagnostic of Stickler syndrome. These criteria demonstrate 100% sensitivity when applied to type I Stickler syndrome patients with known COL2A1 mutations, 98% sensitivity when applied to clinically affected Stickler patients, and 86% specificity when applied to patients unaffected based on clinical and/or molecular analysis. We conclude that diagnostic criteria based on type I Stickler patients with molecularly confirmed COL2A1 mutations appear to be sensitive and specific for the diagnosis of this syndrome and should be helpful to clinicians when making the diagnosis. © 2005 Wiley‐Liss, Inc.
Transmission disequilibrium suggests a role for the sulfotransferase‐4A1 gene in schizophrenia
Authors: Brennan Mark D. , Condra Jodi 
Published: September 2005

AbstractPrevious studies suggest a role for chromosome 22q13 in schizophrenia. This segment of chromosome 22 contains the sulfotransferase‐4A1 (Sult4A1) gene, which encodes an enzyme thought to be involved in neurotransmitter metabolism in the central nervous system. To evaluate this candidate, we developed a microsatellite marker targeting a polymorphism in its 5′ nontranslated region (D22s1749E). Using samples obtained from the National Institutes of Mental Health Schizophrenia Genetics Initiative, we evaluated 27 families having multiple siblings with schizophrenia and schizophrenia‐spectrum disorders for transmission disequilibrium (TDT) of this marker along with three single nucleotide polymorphisms (SNPs) spanning a 37 kb segment containing the Sult4A1 gene. TDT for D22s1749E was significant (P < 0.05), with a tendency for the 213 nt allele to be preferentially transferred to affected children (P = 0.0079). Global chi‐square values for haplotypes involving the SNPs (ss146366, ss146407, and ss146420) and D22s1749E, also showed significant TDT values (P = 0.0006–0.0016). Consequently, we proposed that Sult4A merited more careful scrutiny as a candidate gene for schizophrenia susceptibility. © 2005 Wiley‐Liss, Inc.