Polysyndactyly, complex heart malformations cardiopathy, and hepatic ductal plate anomalies: an autosomal recessive syndrome diagnosed antenatally.
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.
Stoll
Claude
C
Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg Cedex, France. Claude.Stoll@chru-strasbourg.fr
Gasser
B
B
D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006500:Hepatic Duct, Common / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D011296:Prenatal Diagnosis; D011859:Radiography; D013576:Syndactyly / Q000235:genetics / Q000503:physiopathology*