Document Detail


Grebe-Quelce-Salgado chondrodystrophy: prenatal diagnosis of two new cases in unrelated families in Southern Brazil.
MedLine Citation:
PMID:  12407712     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
María Verónica Muñoz Rojas; Luís Flávio Gonçalves
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  113     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-10-30     Completed Date:  2003-04-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  193-9     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Affiliation:
Clínica Materno-Fetal, Florianópolis, Brazil. veronicamunoz@bol.com.br
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MeSH Terms
Descriptor/Qualifier:
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

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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