[A new complex polymalformative syndrome (author's transl)].

  title={[A new complex polymalformative syndrome (author's transl)].},
  author={Guy Hugues Fontaine and J. P. Farriaux and D R Blanckaert and Chantal Lef{\`e}bvre},
  journal={Journal de genetique humaine},
  volume={25 2},
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… CONTINUE READING