Wolf–Hirschhorn syndrome

Abstract

The Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder associated with a partial deletion of the short arm of chromosome 4. The major features of this disorder include a characteristic facial appearance such as a high forehead, highly arched eyebrows, epicanthal folds,coloboma iris and retina, short philtrum, fish-like mouth, low set ears, micrognathia, delayed growth and delayed developmental milestones, intellectual disability and seizures. We are hereby reporting a case which showed typical phenotypic facial features at birth with cloudy cornea.

A case report on Wolf-Hirschhorn syndrome

“…Early diagnosis by identification of facial features will help in managing the learning difficulties. 8…”