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Cornelia de Lange Syndrome
Author(s) -
Nida Noor,
Zehra Kazmi,
Ayesha Mehnaz
Publication year - 2016
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31510
Subject(s) - cornelia de lange syndrome , citation , psychology , library science , computer science , medicine , pediatrics
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. We present here a case of newborn male who presented with the complaints of feed regurgitation, choking and cyanosis. There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism. The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the preand postnatal growth retardation, feeding problems and physical malformations including limb defects.