An infant with a twist : a case of saethre chotzen syndrome

Publication Date

2014

Document Type

Research

Abstract

This is a case of K.O. a 5 month old male who presented with craniosynostosis. This was also accompanied by facial and limb anomalies. Patient was further worked up which showed additional cardiac, renal and vertebral abnormalities. All these put together coincides with a syndrome which was first diagnosed by Saethre further explored by Chotzen. The syndrome has come to be known as Saethre Chotzen syndrome. This syndrome presents with craniofacial and limb abnormalities. What differentiates this from other dysmorphic syndromes is the addition of other abnormalities involving cardiac, renal and vertebral functions. There is a high variability in the phenotypic presentation of this syndrome but this does not prevent patients from living a normal and healthy life.

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