Anophthalmos in an infant with multiple congenital anomalies.
A full-term, 2,828-g male infant who lived five weeks had histologically proven, bilateral, congenital anophthalmos. The infant had multiple congenital anomalies including esophageal atresia, choanal stenosis, tetralogy of Fallot, persistent left superior vena cava, arhinencephaly, retardation of myelination in the brain, cerebellar sclerosis, and dysplasias, as well as other developmental anomalies of the central nervous system. There was no family history of anophthalmos, and, in view of the arhinencephaly, we diagnosed sporadic secondary anophthalmos.
D000015:Abnormalities, Multiple; D000853:Anophthalmos / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male