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Familial occurrence of a syndrome with branchial dysplasia, mental deficiency, club feet, and inguinal herniae
  1. J C Lambert*,
  2. N Ayraud*,
  3. J Martin,
  4. R Mariani,
  5. M Ferrari*,
  6. M Donzeau*
  1. *Laboratoire d'Histologie-Embryologie-Cytogénétique, Faculté de Médecine, Nice, France.
  2. Service de Pédiatrie, Hôpital Lenval, Nice, France.
  3. Service de Pédiatrie, Hôpital de Cimiez, Nice, France.


    A distinct probably autosomal recessive disorder was ascertained in a boy and his sister. The common features were signs of abnormal development of the first and second branchial arches, mental deficiency, club feet, and inguinal herniae. In addition the boy had hypospadias and the girl a ventricular septal defect.

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