Document Detail

Polysyndactyly, complex heart malformations cardiopathy, and hepatic ductal plate anomalies: an autosomal recessive syndrome diagnosed antenatally.
MedLine Citation:
PMID:  12749069     Owner:  NLM     Status:  MEDLINE    
A distinct syndrome was ascertained in a 3-year-old girl and her brother. The proband was the first child of first cousin parents. She was born after an uneventful pregnancy. At birth, multiple congenital anomalies were noted: ptosis of the left eyelid, hypertelorism, anteverted nares, large fontanel, long philtrum, ungueal hypoplasia, polysyndactyly, single transverse crease, complex cardiopathy, and hepatic cysts. During another pregnancy of the mother, fetal ultrasonographic examination showed an hypertrophy of the right ventricle and atria, a dextroposition of the aorta, a bilateral renal pelvis dilatation, and a club foot. After termination of the pregnancy, necropsy showed facial anomalies, a small penis, a polysyndactyly, a ventricular septum defect, and a malformation of the ductal plate. Bonneau et al. [1983: J Genet Hum 2:93-105] described a family in which three sibs had a complex cardiac malformation, hexadactyly of the first toe, and syndactyly of the third and fourth fingers. Rajab [1997: Clin Dysmorphol 6:85-88] described two sibs with similar features in an Omani family. The sibs described in this report had anomalies of the ductal plate which were not reported in the two other families. These new findings are in favor of autosomal inheritance of this condition which is amenable to antenatal diagnosis.
Claude Stoll; B Gasser
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  119A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-05-15     Completed Date:  2004-01-30     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  223-7     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg Cedex, France.
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MeSH Terms
Child, Preschool
Genes, Recessive*
Heart Defects, Congenital / diagnosis,  genetics,  physiopathology*
Hepatic Duct, Common / abnormalities*
Infant, Newborn
Liver / pathology,  radiography
Prenatal Diagnosis*
Syndactyly / genetics,  physiopathology*

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