Marshall syndrome in a Nigerian teenager presenting with refractive error

Abstract

A 14-year-old girl, presented to our eye clinic, with poor distance vision since childhood. High myopia with degenerative retina was found. However, craniofacial disproportion and skeletal dysmorphism, as well as hearing impairment, drew clinical suspicion for a single multisystemic disorder prompting a literature review, which supported a clinical diagnosis of Marshall syndrome (MS). This case report and review of literature describes MS, worthy of note for its rarity, genetic basis and distinctive phenotypic features, but yet easily overlooked in routine clinical practice. This is the second case of MS reported in West Africa and the first in a Nigerian female. This extremely rare, systemic disorder may present unexpectedly, as a seemingly common condition as a refractive error and can be easily overlooked, without a high index of suspicion. Accurate diagnosis, however, is important because MS requires collaborative management by a multidisciplinary team and not the ophthalmologist alone, to ensure a good quality of life.