Antenatal diagnoses of congenital cataracts and related surgical complications in a familial case of Nance-Horan Syndrome

Abstract

Nance-Horan Syndrome (NHS) was initially reported in 1974 by Walter E. Nance in the United States and Margaret B. Horan in Australia [1]. As a rare X-linked hereditary disorder, NHS is characterized by a constellation of ophthalmologic features, dental anomalies, facial dysmorphism, and intellectual delay [1,2]. With fewer than 70 NHS families described in the existing literature, the disease prevalence and incidence remain elusive. Mutations in the causative NHS gene, mapping to chromosome region Xp22.13, impair regulation of midbrain, retina, lens, tooth, and craniofacial development [1,4].