Document Detail


Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.
MedLine Citation:
PMID:  8074145     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe 10 cases born to nondiabetic mothers who presented with severe spondylocostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC). We analyze the associated malformations in the 10 cases with severe SCD, as well as in all cases with less severe SCD among children with MCA patterns of unknown cause. Cases with SCD were preferentially associated with caudal dysgenesis, diaphragmatic hernia, and central nervous system anomalies.
Authors:
M L Martínez-Frías; E Bermejo; L Paisán; M Martín; J Egüés; J A López; S Martínez; C Orbea; F Cucalón; J M Gairi
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  51     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1994 Jul 
Date Detail:
Created Date:  1994-09-23     Completed Date:  1994-09-23     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:  203-12     Citation Subset:  IM    
Affiliation:
ECEMC and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Central Nervous System / abnormalities*
Coccyx / abnormalities
Dysostoses / congenital*
Female
Hernia, Diaphragmatic
Humans
Infant, Newborn
Male
Registries
Ribs / abnormalities*
Spain
Spine / abnormalities*

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


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