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Pediatrics Education and Research

Volume  1, Issue 4, October - December 2013, Pages 149-152
 

Case Report

Cornelia de Lange Syndrome: A Case Report

Sandip Deokate, Sunil Mhaske

*Second Year MD Student, **Professor & Head, Dept of Peadiatrics; Padmashri Dr. Vithalrao Vikhe Patil Medical College & Hospital, Near Govt. Milk Dairy, Vilad Ghat, Ahmednagar – 414111.

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Abstract

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism,cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. We present here a case of newborn with CdLs. 

 

Key words: Cornelia de Lange syndrome; Facial dysmorphism; Upper- extremity malformations.

 


Corresponding Author : Sandip Deokate