| New cases of Bohring-Opitz syndrome, update, and critical review of the literature. | |
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MedLine Citation:
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PMID: 16691589 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Axel Bohring; Grétel G Oudesluijs; Dorothy K Grange; Giuseppe Zampino; Patrick Thierry |
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Publication Detail:
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Type: Case Reports; Comment; Journal Article; Review |
Journal Detail:
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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:
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Created Date: 2006-05-31 Completed Date: 2006-08-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1257-63 Citation Subset: IM |
Copyright Information:
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Copyright 2006 Wiley-Liss, Inc. |
Affiliation:
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Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany. ABohring@aol.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology* Cleft Lip / genetics, pathology Cleft Palate / genetics, pathology Craniofacial Abnormalities / pathology Exophthalmos / genetics, pathology Fatal Outcome Female Forehead / abnormalities Humans Hypertelorism / genetics, pathology Infant Infant, Newborn Male Syndrome |
| Comments/Corrections | |
Comment On:
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Am J Med Genet. 1999 Aug 27;85(5):438-46
[PMID:
10405439
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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