| Grebe-Quelce-Salgado chondrodystrophy: prenatal diagnosis of two new cases in unrelated families in Southern Brazil. | |
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MedLine Citation:
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PMID: 12407712 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Grebe-Quelce-Salgado chondrodystrophy is an autosomal recessive non-lethal skeletal dysplasia. Affected individuals have normal head, neck, and trunk skeleton, relatively normal humeri and femora, short and deformed radii, ulnae, tibiae, and fibulae, and severe abnormalities of hands and feet. Polydactyly is frequent. Digits present as globular appendages and are characteristic of the condition. The disease is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1 (CDMP-1). Most cases described in the literature are from Brazil and, among these, all had ancestors from a particular region in the state of Bahia. We describe two cases of Grebe-Quelce-Salgado chondrodystrophy visualized by prenatal ultrasound. The patients presented in this report do not descend from the population of Bahia and, to our knowledge, case two is the only case with prenatal clinical diagnosis in a family with no previously affected children. |
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Authors:
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María Verónica Muñoz Rojas; Luís Flávio Gonçalves |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics Volume: 113 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2002 Nov |
Date Detail:
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Created Date: 2002-10-30 Completed Date: 2003-04-07 Revised Date: 2006-11-15 |
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: 193-9 Citation Subset: IM |
Copyright Information:
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Copyright 2002 Wiley-Liss, Inc. |
Affiliation:
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Clínica Materno-Fetal, Florianópolis, Brazil. veronicamunoz@bol.com.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Induced Adult Bone Diseases, Developmental / genetics, pathology* Brazil Consanguinity Diagnosis, Differential Family Health Fatal Outcome Female Fetal Diseases / genetics, pathology Humans Infant Male Pregnancy Ultrasonography, Prenatal |
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