ISSN:0148-7299    

DOI:10.1002/ajmg.1320150102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

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 malformati

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe the clinical findings and natural history of an autosomal dominant form of partial lipodystrophy found in four affected individuals from three generations in the same family. The lipodystrophy was present from infancy/early childhood, involved primarily the face and local areas on the buttocks, and was nonprogressive. Affected individuals also had the Rieger anomaly, midface hypoplasia, short stature, retarded bone age, and hypotrichosis. An affected woman developed insulinopenic diabetes mellitus at 39 yr and another had glucose intolerance at 55 yr.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractIndividuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum. Pedigrees have consistently suggested X‐linked inheritance, although the possibility of autosomal dominant inheritance was not excluded. We present a father and two sons affected with the Aarskog syndrome. Thus, the Aarskog phenotype either is genetically heterogeneous or a sex‐influenced autosomal dominant trait as shown by the deficiency of affected females. An ascertainment bias for males could be owing to the shawl scrotum. We have reviewed the literature and tabulated findings in 82 previously reported ca

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractBlood test results, using standard procedures, failed to exclude the alleged father as the biological father of a child in a case of disputed paternity. Using 21 different systems, the probability of exclusion for the man was 98.19%, and the probability of paternity was only 93.90% with a paternity index of 15.48. Chromosome heteromorphisms of all three individuals were studied. By comparison of fluorescent markers of chromosomes 13, 14, 15, 21, and 22, the child was shown to inherit one homologue of each of these chromosomes from the mother, but none were like the heteromorphisms of the alleged father. This excluded him as the biological father.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe have studied a male Japanese infant with severe upper limb brachymesomelia, glomerulocystic renal dysplasia, abnormalities of the cranium and face, corneal opacities, and a possible congenital heart defect. He was born at term and died on the 10th day of heart and kidney failure. Review of the literature failed to show a similar case.Glomerulocystic renal dysplasia has been reported in association with a variety of the nonskeletal malformations but has not previously been described in association with bony malformations.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe a hitherto apparently undescribed ectodermal dysplasia in four siblings. The condition combines severe hypotrichosis, hypoplasia of enamel leading to secondary anodontia, dystrophic nails, supernumerary nipples, nevus pigmentosus, bone deficiency of the fronto‐parietal region, and other anomalies. This condition is probably due to an autosomal‐recessive g

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

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 tr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractThe Bartter syndrome is regarded as an autosomal recessive trait because of sib occurrence, equal sex ratio, and normal parents. Recently, obligatory carriers were shown to have the same pattern of platelet aggregation inhibition as their affected children, possibly a reflection of altered prostaglandin action. We investigated eight patients, and their parents and sibs, and found that all persons included in the study had impaired thrombocyte aggregation. These aggregation studies support the hypothesis that the Bartter syndrome is an autosomal recessive trait.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractIn an earlier study of amilies with two or more sibs affected with a cleft of the lip with or without clefts of the palate, we found no evidence for close linkage of HLA with this malformation. In the present study, we confime our attention to isolated cleft palate, an entity that is genetically distinct from clet palate associated with cleft lip. In 15 sibships with two or more effected sibs, cleft palate, and parental HLA haplotypes assorted independently in the affected sibs, providing evidence against close linkage of this phenotype.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY