| Spondyloepimetaphyseal dysplasia (SEMD) Shohat type. | |
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MedLine Citation:
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PMID: 8074146 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three members of a Jewish family. We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked genua vara, and joint laxity. Roentgenologic findings include short long bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification, platyspondyly and morphological changes of vertebral bodies and fibular overgrowth. The striking resemblance of this patient to those previously reported confirms this form of SEMD as a distinct entity. Autosomal recessive inheritance is supported and the designation SEMD Shohat type is proposed. |
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Authors:
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L E Figuera; M L Ramírez-Dueñas; M P Gallegos-Arreola; J M Cantú |
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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: 51 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Jul |
Date Detail:
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Created Date: 1994-09-23 Completed Date: 1994-09-23 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: 213-5 Citation Subset: IM |
Affiliation:
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División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, México. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Child, Preschool Dwarfism / congenital Fibula / abnormalities* Genes, Recessive Humans Hypertrophy Joint Instability Knee Joint / physiopathology Lordosis / genetics Male Osteochondrodysplasias / genetics*, pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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