Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome

Abstract

A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal laboratory testing. He had no significant family history and no renal, vertebral, gastrointestinal, or cardiac malformations. This combination of central nervous system findings, ocular and craniofacial abnormalities, a normal karyotype, and limited skeletal abnormalities to our knowledge has only been previously described once in the literature in association with a disruption in Pax and Sonic Hedgehog protein pathways, and we conclude this patient represents a variant of this described syndrome.

Keywords

• Anophthalmos
• Cleft lip/palate
• Clinodactly
• Choristoma
• Sonic hedgehog
• Coloboma