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Submitted: 29 January 2014 Modified: 26 June 2014
HERDIN Record #: R04A-DLSHSI-14012911585855

An Infant with a twist: A case of Saethre Chotzen Syndrome

Department of Pediatrics - De La Salle Health Sciences Institute (DLSHSI)

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 and futher explored by Chotzen. The syndrome has come to be known as Seathre Chotzen syndrome. This syndrome presents with craniofacial and limb abnormalities. What differentiates this from other dysmorphic syndrome 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 nor prevent patients from living a normal day healthy life.

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3/F Room 6301 De La Salle Angelo King Medical Research Center Abstract Print Format