Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.

Abstract

The orofaciodigital syndromes are a group of possibly seven different malformation syndromes including oral, facial, and digital malformations. Type I has X linked dominant inheritance whereas the other types show autosomal recessive inheritance. An exact diagnosis is therefore important for genetic counselling. We here report a girl with orofaciodigital syndrome type I. She had cystic kidney disease at the age of 8 months which has not previously been reported in an infant with orofaciodigital syndrome. In addition she had unilateral tibial pseudarthrosis which has only rarely been reported in the orofaciodigital syndromes and in type II only.

Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?

“…Malformations of the hands include clinodactyly, syndactyly, and brachydactyly. Orstavik et al (1992) reported a case with unilateral duplication of the big toe associated with ipsilateral bowing of the tibia, thought to represent a pseudarthrosis.…”