Microcephaly, Retinitis Pigmentosa, And Sutural Cataract

Clinical Features

Ippel et al. (1994) reported 2 sisters and a brother, born to consanguineous Moroccan parents, with sutural cataract, microcephaly, and mental retardation. Retinitis pigmentosa was found in one of sisters at the age of 12 years. Funduscopy was not possible in the 2 other sibs. The same constellation of findings was found in an unrelated Dutch girl. Normal height and the absence of facial dysmorphism and optic atrophy distinguished this syndrome from Cockayne syndrome (216400), infantile Refsum syndrome (see 601539), Mirhosseini Holmes-Walton syndrome (268050), and micro syndrome (600118).

Inheritance

Ippel et al. (1994) suggested autosomal recessive inheritance of this disorder.