ISSN:0148-7299    

DOI:10.1002/ajmg.1320590202

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe describe 2 sibs with lethal, prenatal‐onset cortical hyperostosis. Antenatal sonographic diagnosis of the first sib was that of short limb dwarfism and thoracic dysplasia (nonspecific), possibly osteogenesis imperfecta. The second sib had a similar appearance on ultrasonography. The thickened, irregularly echodense diaphyses were an aid to diagnosis. Although sporadic cases and autosomal dominant inheritance have been described, an autosomal recessive cause for the lethal prenatal onset cases cannot be excluded. © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590203

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end‐plate indentations) and brachydactyly. Our patient also manifested a characteristic “pugilistic” face, sensorineural deafness and mental retardation. This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder. It appears that there is considerable clinical variability in spondyloperipheral dysplasia. © 1995 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590204

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on a Sardinian pedigree with congential ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X‐linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X‐linked ichthyosis which may also result from a mutational event at an X‐chromosomal site genetically unlinked to the STS locus. © 1995 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590205

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

年代:1995

数据来源: WILEY

摘要:

AbstractIn order to study genetic aspects in multicase families, 89 amyotrophic lateral sclerosis (ALS) and 214 Parkinson disease (PD) kindreds were analyzed in parallel studies. Obligate gene‐carriers were identified as described previously [Chatkupt et al., 1992: Am J Med Genet 44:508–512]. There were fewer children per gene‐carrier male (2.42) than per gene‐carrier female (3.25, Student's t‐test,P<.0003) for ALS but not for other diseases. The data taken together suggest that fecundity in ALS gene‐carriers was reduced in males, possibly as a result of reduced fertility. Since childbearing is usually accomplished well before the onset of neurological symptoms in ALS, and since reduced fecundity was found in male ALS gene‐carriers, these findings raise the possibility that an ALS gene might have a pleiotrophic effect on fertility in males occurring decades before the onset of neurological symptoms. Evidence is presented linking reactive oxygen species to reduced fertility in males. Alternatively, decreased or nonfunctional androgen receptors could play a role. © 1995 W

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590206

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

年代:1995

数据来源: WILEY

摘要:

AbstractCleft sternum is a rare malformation due to partial or total failure of sternal fusion at an early stage of embryonic development. Sternal clefts can be classified as superior, inferior, or complete. Here we report on a 2‐year‐old boy with inferior sternal cleft and complex cardiac malformation. We review a series of 9 children with sternal clefts, referred to us over a 10‐year period. Hypothetical mechanisms for this developmental anomaly are discussed. © 1995 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590207

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer‐Saldino), and who also showed postaxial polydactyly on both feet and bilateral microtia. Polydactyly is frequently part of the short‐rib syndromes, but has not been reported in achondrogenesis. The hypothesis of polydactyly as part of a contiguous gene syndrome is discussed. © 1995 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590208

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

年代:1995

数据来源: WILEY

摘要:

AbstractMultiple abnormalities were observed in a newborn infant with a deletion in the long arm of chromosome 21, from band 22q22.1→qter. The phenotype of this infant was similar to that previously described in infants with deletions spanning the long arm of chromosome 21, from the centromere to 21q22 [Rethoré et al., 1972, Exp Cell Res 70:455–456, 1973, Ann Genet (Paris) 16:271–275]. However, as a phenotypically normal child with normal intelligence and with deletion of 21q11.1–21q21.3 has also been identified [Korenberg et al., 1991, Hum Genet 87:112–118], this case suggests that the critical region of deletion for the 21q− phenotype lies distal to 21q21, within 21q22.1–22.2. © 1995

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590209

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

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on a sporadic case of hemifacial hamartomatous hyperplasia. The patient is male, and has sebaceous nevus‐like skin change, subcutaneous lipomatous mass, cranial bone hyperplasia, and bony change of meninges. His lesion involves the anterior half of the face and cranial base, and, medially, is delimited by the midline. No case has been found identical to this in the literature, particularly with respect to the unusual meningeal lesion. However, without this meningeal lesion the rest of the manifestations are not uncommon in Proteus syndrome. Also, this case may be an indication of somatic mosaicism, lethal in its nonmosaic state. Thus, this case may be thought of as a variant of Proteus syndrome. © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590210

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

年代:1995

数据来源: WILEY

摘要:

AbstractX‐linked myotubular myopathy (XLMTM) is a recessively inherited disorder, lethal to males in the first months of life. Since the first report in 1969, at least 90 cases have been described in the literature. Diagnosis is confirmed by muscle biopsy. Linkage studies have localized the disorder to the Xq28 region, close to the loci for X‐linked hydrocephalus and MASA syndrome. We report on 10 additional cases of XLMTM from six different families. In addition to classic clinical features of XLMTM, our patients showed interesting associated findings which included birth length>90th centile and large head circumference with or without hydrocephalus in 70%, narrow, elongated face in 80%, and slender, long digits in 60% of cases. There was concordance in the occurrence and severity of hydrocephalus in most sib pairs. These features in a “floppy” male infant serve as clues for early clinical diagnosis of XLMTM, which can then be confirmed by muscle biopsy. Development of polyhydramnios was observed in the third trimester of an at‐risk dizygotic twin gestation monitored by serial sonography with confirmation of XLMTM at birth. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320590211

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

年代:1995

数据来源: WILEY