[A new complex polymalformative syndrome (author's transl)].
The authors discuss the nosological position and the aetiology of a complex of malformations affecting a boy, born at the end of a 40-week pregnancy with a weight of 1420 g and height of 42.5 cm, who died at the age of 3 1/2 months. The case presented an association of an acrocephalosyndactyly, phalangeal hypoplasias with anonychia, aplasia of the abdominal muscles, a genital hypoplasia with cryptorchidism and hypospadias, patches of lipodystrophy localised on the outside of the arms, at the folds of the elbow and the popliteal fossae. The autopsy revealed a large interventricular communication, absence of common mesentery and especially important cerebral anomalies (smooth brain, absence of interhemispherical suture, disorganization of the basal ganglia). The genetic study suggested a spontaneous abortion 2 1/2 months before the birth of the patient and revealed, in the mother, the presence of bilateral clinodactylies of the fingers and a unilateral syndactyly of the big toes.
D000009:Abdominal Muscles / Q000002:abnormalities; D000015:Abnormalities, Multiple / Q000235:genetics*; D000168:Acrocephalosyndactylia / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D003456:Cryptorchidism / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008060:Lipodystrophy / Q000235:genetics*; D008297:Male; D013577:Syndrome
Un nouveau syndrome polymalformatif complexe.