| Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother. | |
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MedLine Citation:
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PMID: 8387724 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a Japanese girl and her mother with brachydactyly. Their 2nd and 5th middle phalanges were short and the latter was fused with the distal phalanx in one of the patients. Length and shape of proximal and distal phalanges as well as metacarpals seemed normal. These findings are consistent with brachydactyly type 4-A, which is a rare subtype and has not been adequately documented. Short stature was reported only in some cases of brachydactyly type A-1, A-6, C, and E, but not in the other subtypes. Our patients with type A-4 brachydactyly also had short stature. |
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Authors:
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T Ohzeki; K Hanaki; H Motozumi; H Ohtahara; K Shiraki; K Yoshioka |
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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: 46 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1993 May |
Date Detail:
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Created Date: 1993-06-10 Completed Date: 1993-06-10 Revised Date: 2007-11-15 |
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: 260-2 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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classification* Adolescent Dwarfism / pathology* Female Fingers / abnormalities* Hand Deformities, Congenital / classification*, pathology Humans Syndactyly Terminology as Topic* |
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