ISSN:0148-7299    

DOI:10.1002/ajmg.1320140302

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the Meckel syndrome. Diagnosis in case 1 was delayed because of two factors: (1) prolonged survival (28 mo), and (2) the absence of severe craniofacial malformations. These two factors may create difficulties in making this diagnosis and result in uncertainty regarding the medical prognosis of the infant and the genetic prognosis for the parents.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140303

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

年代:1983

数据来源: WILEY

摘要:

AbstractTwo siblings, one a male pseudohermaphrodite and the other female, died on the first day of life. In both instances pregnancy was complicated by polyhydramnios. At autopsy each was found to have multiple abnormalities, some concordant, others discordant. The concordant ones were hypoplastic left‐heart complex, absent pulmonary lobation, polydactyly, bilateral talipes, and, on microscopic examination, some large atypical cells in the pancreatic islets.Chromosome cultures failed to grow. As far as is known parents were unrelated. Autosomal recessive inheritance is considered a possible cause, and the infants are thought to have the most severe form of the so‐called Smith‐Lemli‐Opitz (RSH) S

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140304

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

年代:1983

数据来源: WILEY

摘要:

AbstractThe syndromes of Smith‐Lemli‐Opitz (RSH) and of Meckel are usually clinically distinct but have many overlapping manifestations. In rare instances it may be difficult to distinguish them, especially if an autopsy is not done. Attention to detail is essential for accurate delineation. Two other syndromes, the C and Hydrolethalus, should be considered in the differential diagno

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140305

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

年代:1983

数据来源: WILEY

摘要:

AbstractFour patients are presented with the Goldenhar syndrome (GS) and cranial defects consisting of plagiocephaly, microcephaly, skull defects, or intracranial dermoid cysts. Twelve cases from the literature add hydrocephalus, encephalocele, and arhinencephaly to a growing list of brain anomalies in GS. As a group, these patients emphasize the variability of GS and the increased risk for developmental retardation with multiple, severe, or unusual manifestations. The temporal relation of proposed teratogenic events in GS provides an opportunity to reconstruct biological relationships within the 3–5‐week human emb

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140306

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe a baby with external and internal anomalies of the Majewski form of the short rib‐polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histologic abnormality at the chondro‐osseous junction suggest that this syndrome may be heterogenous or more variable than previously kn

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140307

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

年代:1983

数据来源: WILEY

摘要:

AbstractTrisomy 12 mosaicism was found in a 36‐year‐old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a “complete” trisomy 12 in a liveborn ind

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140308

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report a brother and sister who died neonatally with a distinctive but variable multiple congenital anomaly (MCA) syndrome. Anomalies in both included similar facial changes, cleft palate, distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities. They were discordant for cleft lip, diaphragmatic hernia, and Dandy‐Walker anomaly. These sibs resemble three recently reported stillborn children and support the existence of a “new” autosomal recessive MCA syndrome with variable express

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140309

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report a boy with predominantly unilateral severe tibia defect with a high grade of preaxial polydactyly. Family history suggests the possibility of autosomal dominant inheritance with reduced penetrance and quite variable expressivity. The boy's phenotype and other previously reported examples of predominantly unilateral involvement in autosomal dominant and autosomal recessive limb mutations strongly suggest a hypothesis of developmental resistance in the uninvolved parts.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140310

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had one or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. We suggest the term “branchio‐oto‐ureteral syndrome” to designate this co

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140311

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

年代:1983

数据来源: WILEY