Smith syndrome (facio-skeleto-genital dysplasia)

General: Autosomal recessive; more common in males.

Ocular: Ptosis; antimongoloid slant; epicanthus.

Clinical: Microcephaly; high-arched palate; large, low-set ears; mental retardation; broad nose; hypoplastic mandible; pedal syndactyly.

Aita JA. Congenital facial anomalies with neurologic defects. Springfield, IL: Charles C. Thomas, 1969:246.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes. 2nd ed. Philadelphia: JB Lippincott, 1981.