Wolf–Hirschhorn syndrome
Journal Title: Pediatric Review: International Journal of Pediatric Research - Year 2016, Vol 3, Issue 7
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.
Authors and Affiliations
Rugmini Kamalammal, Shivaprakash N C, Naveen K S
Keywords
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