Document Detail

Seckel syndrome associated with atrioventricular canal defect: a case report.
MedLine Citation:
PMID:  15127771     Owner:  NLM     Status:  MEDLINE    
Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant microcephaly and a convex nose. We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance.
Birsen Ucar; Zübeyir Kilic; Ener Cagri Dinleyici; Ayten Yakut; Nesrin Dogruel
Publication Detail:
Type:  Case Reports; Letter    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  13     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2004-05-06     Completed Date:  2004-06-02     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  53-5     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / diagnosis
Face / abnormalities*
Genes, Recessive
Hand Deformities, Congenital / diagnosis
Heart Septal Defects, Atrial / diagnosis*
Heart Septal Defects, Ventricular / diagnosis*
Mental Retardation / diagnosis*
Microcephaly / diagnosis*

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

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