Identifying the white forelock for early visual stimulation and speech therapy among X-men (van der Hoeve-Halbertsma-Waardenburg syndrome) in ophthalmology

Abstract

A day-old male neonate presented with white forelock on his forehead. On evaluation, the neonate had telecanthus, broad nasal bridge, and surprisingly homochromic but hypochromic irides bilaterally. The W-index was 2.38 which was an indication of Type 1 Waardenburg syndrome (WS) with dilated fundus evaluation revealing pigmentary deficit in the retina depicting a orangish hue. The corneal diameter was 9 mm in both eyes. Both the external auditory meatus and external ears appeared normal. The parents who had a history of second-degree consanguineous marriage had visual acuity of 20/20 with normal dark brown irides and normal fundi. Genetic counseling, visual rehabilitation, and auditory evaluation to rule out sensory neural hearing loss were stressed upon for good quality of life, which is mandatory among neonates diagnosed with van der Hoeve-Halbertsma-Waardenburg syndrome.