Document Detail


Midline raphé, sternal cleft, and other midline abnormalities: a new dominant syndrome?
MedLine Citation:
PMID:  15810010     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Sternal fusion defects are malformations that often present as an isolated finding. An association with multiple malformations has been reported, in particular with midline raphe and craniofacial hemangiomas and as part of the pentalogy of Cantrell. Most syndromic cases were sporadic with a few families reported with recurrence in sibs. We describe a mother and two daughters with midline raphe and sternal defects. Affected members also had double central incisors, congenital heart defect, neck webbing, bicornuate uterus and minor anomalies including long face with hypotelorism. None of the three affected relatives had hemangiomas. The manifestations of these patients do not fit any previously described condition, and we propose they represent a new syndrome. This family is also important as it points to a possible genetic cause for at least some cases of this disorder of the ventral midline.
Authors:
Francesca Forzano; Piers E F Daubeney; Susan M White
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  135     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-04-26     Completed Date:  2005-05-31     Revised Date:  2005-07-20    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  9-12     Citation Subset:  IM    
Copyright Information:
(c) 2005 Wiley-Liss, Inc.
Affiliation:
Clinical Genetics Unit, Great Ormond Street Hospital, London, United Kingdom.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology*
Adolescent
Craniofacial Abnormalities / pathology
Family Health
Female
Heart Defects, Congenital / pathology*
Humans
Male
Middle Aged
Pedigree
Sternum / abnormalities*
Syndrome
Uterus / abnormalities
Comments/Corrections
Erratum In:
Am J Med Genet A. 2005 Jul 15;136(2):227

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


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