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.     

Disc electrophoresis of collagen protein (author's transl)]

The composition of proteins extracted from tendon collagen is investigated by disc electrophoresis. No qualitative differences can be demonstrated between young and old collagen. The action of formaldehyde and methionine on the tendons has no effect on the electrophoretic picture.