Document Detail

Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation.
MedLine Citation:
PMID:  25325328     Owner:  NLM     Status:  Publisher    
Syngnathia is a rare congenital disorder of jaw fusion with a paucity of literature from developed countries. We present a case of an infant noted to have multiple anomalies at birth including syngnathia, microcephaly with a variant of brain abnormality between holoprosencephaly and syntelencephaly, optic nerve hypoplasia, ear canal anomalies, hemi-vertebrae, and suspected hypomelanosis of Ito. To our knowledge, this patient with syngnathia and multiple anomalies is the first to be reported, but whether they are a coincidence, a pathogenetic association, or a new syndrome remains unknown. This case is discussed with a brief review of the literature.
Linda Mahgoub; Chloe Joynt; Ravi Bhargava; Dawn Davies; Hamdy El-Hakim; Walter Dobrovolsky
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-17
Journal Detail:
Title:  The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association     Volume:  -     ISSN:  1545-1569     ISO Abbreviation:  Cleft Palate Craniofac. J.     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-17     Completed Date:  -     Revised Date:  2014-10-18    
Medline Journal Info:
Nlm Unique ID:  9102566     Medline TA:  Cleft Palate Craniofac J     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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