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Pediatric Education and Research 1(4):p 149-152, October - December 2013. | DOI:
Case Report
Cornelia de Lange Syndrome: A Case Report
Sandip Deokate , Sandip Deokate , Sunil Mhaske
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Pediatric Education and Research 1(4):p 149-152, October - December 2013. | DOI:
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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.
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