Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism

Clinical Features

Dincsoy et al. (1995) described male and female infant sibs, born to consanguineous parents, with defects of the midline, including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of the corpus callosum, in addition to short limbs, an unusual radiolucent tibial notch, digital anomalies (camptodactyly with overlapping fingers and flexion deformity), ambiguous genitalia, and hypopituitarism. The disorder shared some overlapping features, including short limbs, with the hydrolethalus syndrome (236680) and the pseudotrisomy 13 syndrome (264480), but the sibs did not have have renal or gastrointestinal anomalies or preaxial or postaxial polydactyly. Dincsoy et al. (1995) noted that the bilateral radiolucent tibial notch was a distinctive feature in their patients.

Inheritance

Dincsoy et al. (1995) suggested autosomal recessive inheritance of this disorder.