Document Detail


Cornelia de lange syndrome.
MedLine Citation:
PMID:  22630109     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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 pre- and postnatal growth retardation, feeding problems and physical malformations including limb defects.
Authors:
Nida Noor; Zehra Kazmi; Ayesha Mehnaz
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the College of Physicians and Surgeons--Pakistan : JCPSP     Volume:  22     ISSN:  1681-7168     ISO Abbreviation:  J Coll Physicians Surg Pak     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-05-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9606447     Medline TA:  J Coll Physicians Surg Pak     Country:  Pakistan    
Other Details:
Languages:  eng     Pagination:  412-3     Citation Subset:  IM    
Affiliation:
Department of Paediatrics, Civil Hospital, Dow University of Health Sciences, Karachi.
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