| Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes? | |
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MedLine Citation:
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PMID: 8986276 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a Bedouin boy with multiple congenital anomalies/mental retardation (MCA/MR). He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polydactyly of both hands, microphallus, hypoplastic scrotum, microtestes, dysgenesis of corpus callosum, and a Dandy-Walker variant. This phenotype overlaps both the Varadi-Papp syndrome (OFD VI) and Opitz trigonocephaly (C syndrome). This phenotypic overlap is discussed in light of the concept of splitting and lumping in genetic diseases. |
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Authors:
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M A Sabry; Q al Saleh; S Farah; D Obenbergerova; S Simeonov; S A al Awadi; T I Farag |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 68 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1997 Jan |
Date Detail:
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Created Date: 1997-03-18 Completed Date: 1997-03-18 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 54-7 Citation Subset: IM |
Affiliation:
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Medical Genetics Centre, Maternity Hospital, Kuwait. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Arabs Craniofacial Abnormalities / pathology* Fingers / abnormalities* Humans Infant Male Phenotype Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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