| Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry. | |
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MedLine Citation:
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PMID: 8074145 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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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: 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: 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: 203-12 Citation Subset: IM |
Affiliation:
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ECEMC and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Central Nervous System / abnormalities* Coccyx / abnormalities Dysostoses / congenital* Female Hernia, Diaphragmatic Humans Infant, Newborn Male Registries Ribs / abnormalities* Spain Spine / abnormalities* |
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