[Polysyndactyly with complex cardiopathy. Apropos of 3 cases in the same family].
This study deals with a family where three successive children presenting with a complicated polymalformative syndrome, died. The first child, a boy, had atrial and ventricular septal defect. The second and third children, both females, had cardiac abnormalities with a single ventricle with common auriculo-ventricular valve. Each case was associated with low ear insertion and first toe bilateral polysyndactyly. Familial inquiry showed neither consanguinity nor similar cases in relatives and ancestors within three generations. This polymalformative syndrome could be genetically determined.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D006972:Hypertelorism / Q000473:pathology; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D006831:Polyhydramnios / Q000473:pathology; D011247:Pregnancy; D013576:Syndactyly / Q000235:genetics / Q000473:pathology*
Polysyndactylie avec cardiopathie complexe. A propos de trois cas dans une même fratrie.