Document Detail


Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.
MedLine Citation:
PMID:  16877861     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.
Authors:
Rajoo Thapa; Shanto Pramanik; Maya Mukhopadhyay; Apurba Ghosh
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  73     ISSN:  0973-7693     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2006 Jul 
Date Detail:
Created Date:  2006-07-31     Completed Date:  2006-08-14     Revised Date:  2009-07-15    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  631-2     Citation Subset:  IM    
Affiliation:
The Institute of Child Health, Kolkata, India.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple
Coloboma / etiology*
Craniofacial Dysostosis / complications
Fatal Outcome
Humans
Infant, Newborn
Male
Respiratory Distress Syndrome, Newborn / complications

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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