bluuebunny/crossref_metadata_2025_split huggingface dataset:
Graves disease in a patient with the del(18p) syndrome
Authors: Jones Kenneth Lee , Carey Dennis E. , Opitz John M. 
Published: June 2005

AbstractWe report the first known patient with a del(18p) and Graves disease. This deletion has previously been reported to be associated with autoimmune thyroid disease and, perhaps, with inborn errors of thyroxin biosynthesis. We present the clinical and histological information on this patient and review the literature in an attempt to clarify the relationship between abnormalities of chromosome 18 and thyroid disease.
Genetic counseling in adult polycystic kidney disease
Authors: Sahney Shobha , Weiss Lester , Levin Nathan W. , Opitz John M. 
Published: June 2005

AbstractWe evaluated 22 patients with end‐stage renal disease (ESRD) due to adult polycystic kidney disease (APKD) to assess their knowledge of the hereditary nature of the condition and to determine whether they received adequate genetic counseling. Patients were evaluated by means of a questionnaire and a review of their medical records. Only 5 of 22 (23%) knew their disorder was hereditary at the time of diagnosis, and in only 4 (18%) was genetic counseling suggested. In no instance had proband and spouse received genetic counseling together. Diagnostic studies of children at risk were rarely suggested.We also evaluated the children of 9 probands for APKD. Of 26 children evaluated, 17 had APKD (65%). Sixteen had no children at the time of testing. All but two of the 26 were less than 25 years old. Of the probands' children over 15 years of age, 55% knew the name of the condition in the family but only 9% knew they should be tested. Our study demonstrated inadequacy of genetic counseling and follow‐up in this group of patients; we suggest that referral for counseling become a routine part of their management. Early diagnosis and effective counseling has the potential benefit for the individuals of making rational reproductive decisions appropriate for their situation. Counseling may have to be repeated during the course of the patients' disease, as their perception of risk may change with time. With advances in dialysis and transplantation, ESRD may not be as devastating in years to come as it is now.
Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause
Authors: Coco Roberto , Penchaszadeh Victor B. , Opitz John M. 
Published: June 2005

AbstractWe report a cytogenetic study of 200 children with mental retardation and three or more major or minor congenital anomalies. In all cases, the chromosomes were studied with conventional staining methods (nonbanding) and with at least one of the following techniques: Q, G, or R banding. In a few patients, C banding and in vitro differentiation with BUDR and acridine orange (R banding) were also used. In patients with structural abnormality, parental chromosomes were studied using the same techniques.A chromosome abnormality was found in 42 patients (21%). Of these, 16 (8%) had complete or mosaic aneuploidies (11 autosomal and 5 gonosomal); and 26 (13%) had structural defects. In 21 of the latter the structural abnormality occurred as a de novo rearrangement, and in 5 the defect was inherited from a parent carrier of a balanced rearrangement. The contribution of chromosome aberrations to the cause of (idiopathic) MCA/MR syndromes is discussed.
The acrocallosal syndrome
Authors: Nelson M. M. , Thomson A. J. , Opitz John M. 
Published: June 2005

AbstractWe report two unrelated patients, a three‐year‐old girl and an 8 8/12‐year‐old boy with the newly described “acrocallosal” syndrome. The main manifestations of the syndrome are unusual facial appearance, pre‐ and postaxial polydactyly, mental retardation, and absence of the corpus callosum. Cause remains unknown.
Marker X syndrome in an oriental family with probable transmission by a normal male
Authors: Rhoads Frances A. , Oglesby Allan C. , Mayer Martha , Jacobs Patricia A. 
Published: June 2005

AbstractWe report an oriental family with sex‐linked mental retardation, macroorchidism, and a marker or fragile site on the X chromosome–mar(X)(q28). The three affected males resemble clinically most previously reported affected Caucasians. The marker was present in four females 40–70 years old, including one with normal intelligence. Transmission of the disorder appears to have taken place through a clinically normal male to his grandson.
Psychological aspects of genetic counseling. II: Quantitative analysis of a transcript of a genetic counseling session
Authors: Kessler Seymour , Jacopini A. Gioia , Opitz John M. 
Published: June 2005

AbstractThe Bales system of scoring small group interactions was used to analyze a transcript of a preamniocentesis (genetic) counseling session in which a husband (H), wife (W), and a male counselor (C) participated. Scoring required the subdivision of communication into the smallest meaningful and scorable units, assigning each unit one of twelve possible category scores and designating the initiator and intended recipient(s) of the unit. The categories included “positive” and “negative” reactions, questions and attempted answers. Over half the units were found to consist of interactions in which information, orientation, and clarification were provided. C initiated 54% of all units of which three‐quarters consisted of factual information regarding amniocentesis, genetic risks, Down syndrome, and mental retardation. C interacted significantly more frequently with W than with H, but units directed toward H were significantly more positive than those toward W. One interaction, in which C responded to affective material, significantly altered the subsequent frequency and direction of units; H became more verbal and there was an increase in further affective expression. Although evidence of persuasion was present, no directiveness was demonstrated. The data show that quantitative study of genetic counseling is feasible. Further research on different counseling styles and on the influence of specific interventions on later outcome has been undertaken.
Spinal dysraphia as an autosomal dominant defect in four families
Authors: Fineman Robert M. , Jorde Lynn B. , Martin Rick A. , Hasstedt Sandra J. , Wing S. Douglas , Walker Marion L. 
Published: June 2005

AbstractFour families were selected randomly on the basis of the occurrence of spina bifida cystica and/or spina bifida occulta in one or more family members. Sixty‐three relatives were studied clinically and roentgenologically; their roentgenograms were evaluated blindly. Twenty‐eight were clinically and roentgenologically normal; 35 were diagnosed as having spina bifida occulta (SBO), spina bifida cystica (SBC), vertebral anomalies, and/or external defects usually interpreted as evidence for SBO. Excluding one proband we found the frequency of SBO to be 19/51 (37%) and the frequency of all types of spinal/vertebral defects (excluding five probands) to be 30/58 (52%). The distribution of these defects in the four families was analyzed using likelihood methods corrected for random ascertainment.The log likelihood values for sporadic, recessive, and dominant models were −26.69, −20.95, and −18.90, respectively, indicating a higher likelihood of autosomal dominant inheritance than sporadic occurrence or recessive inheritance. The penetrance probability in this dominant model, estimated by maximum likelihood, is 0.749 ± 0.100. Further examination of these data suggests that SBO and SBC represent different expressions of the same dominant gene in these kindreds.
Atelosteogenesis
Authors: Maroteaux P. , Spranger J. , Stanescu V. , Le Marec B. , Pfeiffer R. A. , Beighton P. , Mattei J. F. , Opitz John M. 
Published: June 2005

AbstractThe name atelosteogenesis is proposed for a lethal chondrodysplasia characterized by deficient ossification of various bones, notably the humerus, femur, thoracic spine, and hand bones. Clinically, the patients have micromelic dwarfism with incurvated legs, club feet, often dislocation of the elbows, and, rarely, a cleft palate. The most characteristic radiographic signs are incomplete ossification of the vertebral bodies with coronal clefts of the lumbar and hypoplasia of the upper thoracic vertebral bodies, a distal hypoplasia and club shape of the humerus and the femur, and the lack of ossification of single phalanges and metacarpals in most patients. Histologically, there are clusters of chondrocytes surrounded by fibrous capsules and, more frequently, degeneration zones containing degenerated chondrocytes and copious amounts of metachromatic material in the epiphyses and the basal zone of the growth plate.
Spondylometepiphyseal dysplasia, strudwick type
Authors: Anderson C. E. , Sillence D. O. , Lachman R. S. , Toomey K. , Bull M. , Dorst J. , Rimoin D. L. , Opitz John M. 
Published: June 2005

AbstractThe clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro‐osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the heterogeneous group of skeletal dysplasia involving spine and tubular bones, the spondyloepiphyseal, and spondylometaphyseal dysplasias. Disproportionately short limbs and delayed epiphyseal maturation are present at birth, and the entity is radiographically indistinguishable from spondyloepiphyseal dysplasia (SED) congenita during infancy. The metaphyseal change that allows identification of the entity described here develops during early childhood, and radiographically is seen as “dappling,” ie, the mottled appearance of alternating zones of osteosclerosis and osteopenia. Severe scoliosis and cord compression may be important clinical problems related to the spine changes in adulthood. We have identified one family with two affected sibs and normal parents, suggesting autosomal recessive inheritance and distinguishing the entity from SED congenita that has autosomal dominant inheritance.
Deafness, onycho‐osteodystrophy, mental retardation (DOOR) syndrome
Authors: Nevin N. C. , Thomas P. S. , Calvert J. , Reid M. McC. 
Published: June 2005

AbstractWe report two patients with sensorineural deafness, onycho‐ and osteodystrophy of fingers and toes, and mental retardation (DOOR syndrome). In addition, one patient, the only son of consanguineous parents, had seizures and hypoplasia of the optic nerves. The second patient, a male, was the only one affected in a sibship of three.
Prenatal diagnosis of cyclopia
Authors: Elejalde B. Rafael , de Elejalde Maria Mercedes , Hamilton Phillip R. , Christenson Richard , Broekhuizen Fredrik , Opitz John M. 
Published: June 2005

AbstractTwo fetuses affected by cyclopia, holoprosencephaly, and malformations of the nasopharynx were diagnosed prenatally in association with acute polyhydramnios. The facial malformations, confirmed by fetography‐amniography and proven at birth, were suspected on the basis of the ultrasonographic examination.
Age‐of‐onset heterogeneity in Huntington disease families
Authors: Pericak‐Vance M. A. , Elston R. C. , Conneally P. M. , Dawson D. V. , Opitz John M. 
Published: June 2005

AbstractTen Huntington disease (HD) families are analyzed using maximum likelihood methods to study age‐of‐onset (AO) heterogeneity. Both age of onset and age at examination are used in calculating an individual's likelihood of being affected; familial correlations and family structure are not included in the model. The model allows for differences in current age distributions by considering the distribution of age of onset conditional on age at examination.Families are grouped according to family type (ie, juvenile‐onset families and adult‐onset families) and then analyzed within each family type as well as between the two types, using both a chi‐square test for heterogeneity and F‐ratios. The results of the chi‐square analyses indicate heterogeneity in AO among the individual families as well as between the two family types. However, the results of the F‐ratios show no significant difference between the two family types, indicating that the difference in the chi‐square analysis between the two family types is mostly owing to variation among the families. Thus, the results demonstrate that the existing variation in age of onset between these two family types is dwarfed by the magnitude of the variation among the families within each type. This implies that families of sufficient size should be evaluated individually for age‐of‐onset data for the purpose of either genetic counseling or linkage studies.
Antley‐Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus
Authors: Schinzel Albert , Savoldelli Guido , Briner Jakob , Sigg Peter , Massini Carlo , Opitz John M. 
Published: June 2005

AbstractSisters with the Antley‐Bixler syndrome are reported herein. The first infant died at 14 days of respiratory failure and the following findings characteristic of the syndrome: craniosynostosis of coronal and lambdoid sutures, brachycephaly, frontal bossing, severe midface hypoplasia with proptosis and choanal stenosis/atresia, humero‐radial synostosis, medial bowing of ulnae, long slender fingers with camptodactyly, narrow iliac wings, anterior bowing of femora, cardiac and renal malformations. Unlike two previously published cases, she did not have connatal fractures, but she had vaginal atresia. Ultrasound examination in a subsequent pregnancy showed immobility at the elbows of the fetus, humero‐radial synostosis, medial bowing of ulnae, and long hands and fingers. The fetus also had mild bowing of femora. The pregnancy was terminated in the 21st week and the findings were confirmed by clinical and radiologic examinations. Additional autopsy findings included cardiac and renal malformations. The Antley‐Bixler syndrome is a recognizable malformation syndrome with a probable autosomal recessive mode of inheritance, which can be diagnosed in the fetus by midtrimester ultrasound examination.
Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a brazilian family
Authors: Richieri‐Costa A. , Gollop Thomaz R. , Colletto G. M. D. D. , Opitz John M. 
Published: June 2005

AbstractWe describe two daughters of a nonconsanguineous couple. Both had facial and skeletal anomalies, but in quantitatively and qualitatively different ways. In one patient signs of mandibulofacial dysostosis are associated with anomalies of the radial rays of both arms. In the other, cleft lip and cleft palate are associated with hypoplastic thumbs. Clinical and genetical aspects of present case are discussed.
Blood groups, immunoglobulin allotypes and dermatoglyphic features of patients with amyotrophic lateral sclerosis and parkinsonism‐dementia of guam
Authors: Garruto R. M. , Plato C. C. , Myrianthopoulos N. C. , Schanfield M. S. , Gajdusek D. C. , Herrmann Jürgen 
Published: June 2005

AbstractBlood group frequencies, immunoglobulin allotypes, and dermatoglyphic patterns were determined on patients with amyotrophic lateral sclerosis (ALS) and parkinsonism‐dementia (PD), two chronic, degenerative, neurologic disorders of unknown cause found commonly among the Chamorros of the Mariana Islands, in an attempt to identify a specific genetic or phenetic marker associated with either disorder. With the exception of the Kidd system, no significant differences were found in blood group frequencies nor in immunoglobulin allotypes between ALS patients, PD patients, and unaffected controls. The dermatoglyphic analysis demonstrated that ALS patients had higher frequencies of palmar patterns and accessory triradii in the IV interdigital area, and PD patients had significantly higher frequencies of complete simian creases and of palmar patterns in the thenar/I interdigital area than unaffected controls. The frequencies of the remaining dermatoglyphic traits showed no significant differences. We conclude that none of the marker systems tested show a particular pattern of association in patients and controls or a genetic predisposition to either disorder, and that early identification of at‐risk individuals remains elusive.
Complex segregation analysis and computer‐assisted genetic risk assessment for Duchenne muscular dystrophy
Authors: Williams Wick R. , Thompson Margaret W. , Morton Newton E. , Opitz John M. 
Published: June 2005

AbstractTwo hundred forty‐four Toronto pedigrees of Duchenne muscular dystrophy patients have been partitioned into nuclear families with pointers for complex segregation analysis under a mixed model. The model takes into account the major X‐linked locus and a multifactorial transmissible component for creatine kinase activity in females. The incidence in the province of Ontario is estimated to be 292 per million male births. The proportion of sporadic cases is 1/3, demonstrating equal mutation rates in males and females. A multifactorial component (H = 0.379) contributes to family resemblance for creatine kinase measurements. Examples are presented of the application of a computer program, COUNSEL, to derive genetic risks for genetic counseling with consideration of the multifactorial component.
New, autosomal dominant form of ectodermal dysplasia
Authors: Tuffli Gordon A. , Laxova Renata , Opitz John M. 
Published: June 2005

AbstractWe describe a 15‐year‐old boy with an ectodermal dysplasia syndrome (EDS) associated with unilateral adrenal cyst. The EDS combination of aplasia cutis verticis, hypohidrosis, nipple/breast hypoplasia, onychodysplasia, and delayed dental eruption with minor tooth anomalies has not been previously reported as an autosomal dominant trait. The association with adrenal cyst may alert other units to review their experience to determine if such combination is more than a coincidence.
Aqueductal stenosis leading to hydrocephalus—an unusual manifestation of neurofibromatosis
Authors: Horwich Arthur , Riccardi Vincent M. , Francke Uta , Opitz John M. 
Published: June 2005

AbstractTwo brothers and an unrelated male with neurofibromatosis (NF) developed hydrocephalus in childhood. Aqueductal stenosis (AS) was demonstrated by ventriculography and required shunt operation. Genetic counselors had to decide whether to invoke an X‐linked gene for AS or whether AS could be caused by the NF mutation. Reports of 13 patients of both sexes with AS and NF suggest that AS with resulting hydrocephalus may be a rare manifestation of the NF gene. AS should be looked for in young NF patients with signs of hydrocephalus or with neurologic abnormalities.
Hb F levels, longevity of homozygotes and clinical course of sickle cell anemia in Brazil
Authors: Hutz Mara H. , Salzano F. M. , Adams J. , Opitz John M. 
Published: June 2005

AbstractA sample of 354 individuals with sickle cell anemia ascertained in the city of Rio de Janeiro was studied to investigate the relationships between Hb F level, morbidity, and mortality. The mean Hb F level was 6.41 ± 5.21%. The relationship between age and the proportion of Hb F can be described as a quadratic polynomial distribution, the level falling from approximately 11% in the first year to 4% at 25 years and then rising proportionally after 30 years. The correlations between Hb F level and 140 variables, including hematological values, signs and symptoms of the disease, as well as therapeutic requirements, showed that the patients with high Hb F levels are less anemic and have a more benign course. Several significant correlations (between amount of Hb F and the following clinical signs: pallor of mucous membranes, jaundice, cholelithiasis, leg ulcers, bronchial asthma, increased pulmonary vascularity, left ventricular hypertrophy, and osteomyelitis) are being reported here for the first time.
The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly
Authors: Martin Nicole J. , Steinberg Barry G. , Opitz John M. 
Published: June 2005

AbstractWe report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.
The Kenny‐Caffey syndrome: Growth retardation and hypocalcemia in a young boy
Authors: Lee W. K. , Vargas A. , Barnes J. , Root A. W. 
Published: June 2005

AbstractA 2‐year‐old black boy with the Kenny‐Caffey syndrome was first evaluated because of growth retardation and hypocalcemia. Hypothalamic‐pituitary function was normal. Basal serum somatomedin C levels were normal for age, but did not increase during short‐term administration of human growth hormone. Serum immunoreactive parathyroid hormone levels remained inappropriately low during spontaneous and induced hypocalcemia, indicating that hypocalcemia was the consequence of hypoparathyroidism. The manifestations of 15 patients with this syndrome are tabulated.
The campomelic syndrome: Review, report of 17 cases, and follow‐up on the currently 17‐year‐old boy first reported by Maroteaux et al in 1971
Authors: Houston C. Stuart , Opitz John M. , Spranger Jürgen W. , Macpherson Roderick I. , Reed Martin H. , Gilbert Enid F. , Herrmann Jürgen , Schinzel Albert 
Published: June 2005

AbstractWe report 17 cases of the campomelic syndrome (CS) and a follow‐up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own.An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium.The bell‐shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo‐bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS‐based hypotonia contribute to the respiratory problem.Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, and rarely renal cysts.We conclude on the basis of mostly sporadic (“chance isolated”) occurrence, several instances o parental consanguinity, and familial occurrence that the CS is probably owing to the homozygous state of an autosomal recessive gene. Affected males may have normal genitalia with desceding testes or female genitalia with streak‐like gonadal rudiments, or any stage of male pseudohermaphroditism between these two extremes. Whether the H‐Y antigen deficiency observed in “sex reversed” CS males is a primary or secondary defect remains unsettled.This not uncommon syndrome is usually fatal within days, weeks, or months. However, several young survivors are known with initially normal neurologic status and psychomotor development. Our patient 17 is 17 years old, has an estimaged IQ of 45, and a hearing loss, which may reflect numerous middle‐ear infections and malformations of the middle ear.
Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness
Authors: Sommer Annemarie , Young‐Wee Theresa , Frye Thomas 
Published: June 2005

AbstractWe describe in a mother and her infant daughter a previously unreported syndrome of unusual craniofacial, hand, and digital anomalies. Both mother and child have a flat facial profile, hypertelorism, hypoplastic nose with slit‐like nares, and a sensorineural hearing loss. Common radiographic manifestations include small maxilla, absent or small nasal bones, and ulnar deviation of the hands. This is either an autosomal dominant or X‐linked trait.