Document Detail

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
MedLine Citation:
PMID:  16691589     Owner:  NLM     Status:  MEDLINE    
We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic suture, frontal nevus flammeus, exophthalmos, hypertelorism, upslanting palpebral fissures, and cleft lip and/or palate, as well as flexion deformities of the upper limbs, multiple other anomalies, and severe failure to thrive. We also update the clinical outcome of the patients reported in the original article by Bohring et al. [Am J Med Genet 85:438-446] and critically review the subsequently published cases considered to have Bohring-Opitz syndrome.
Axel Bohring; Grétel G Oudesluijs; Dorothy K Grange; Giuseppe Zampino; Patrick Thierry
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Publication Detail:
Type:  Case Reports; Comment; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  140     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-05-31     Completed Date:  2006-08-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1257-63     Citation Subset:  IM    
Copyright Information:
Copyright 2006 Wiley-Liss, Inc.
Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology*
Cleft Lip / genetics,  pathology
Cleft Palate / genetics,  pathology
Craniofacial Abnormalities / pathology
Exophthalmos / genetics,  pathology
Fatal Outcome
Forehead / abnormalities
Hypertelorism / genetics,  pathology
Infant, Newborn
Comment On:
Am J Med Genet. 1999 Aug 27;85(5):438-46   [PMID:  10405439 ]

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