| Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature. | |
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MedLine Citation:
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PMID: 20684007 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report here on a 25-year follow-up of cranio-meta-diaphyseal dysplasia in a 31-year-old Caucasian male, who was reported in the literature at the age of 8 years [Langer et al. (1991); Skeletal Radiol 20:37-41]. He has hyperostotic craniofacial features with protruding lower jaw and midface hypoplasia. He has the typical radiographic features of wide long tubular bones without normal metaphyseal flaring and wide short tubular bones without normal diaphyseal constriction. We describe here his clinical and radiological findings and compare his case with those published in the literature. He is the oldest reported patient with this disorder giving some insight into the natural history of this rare skeletal dysplasia. |
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Authors:
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Shweta U Dhar; Terry Taylor; Charles Trinh; Vernon R Sutton |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-30 Completed Date: 2010-12-15 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: 2335-8 Citation Subset: IM |
Affiliation:
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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. dhar@bcm.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Bone Diseases, Developmental / radiography* Camurati-Engelmann Syndrome / radiography* Craniofacial Abnormalities / radiography Follow-Up Studies Humans Male Osteochondrodysplasias / radiography Rare Diseases |
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