Document Detail

The cerebro-costo-mandibular syndrome: seven patients and review of the literature.
MedLine Citation:
PMID:  9571277     Owner:  NLM     Status:  MEDLINE    
We report seven patients with the cerebro-costo-mandibular syndrome, a multiple congenital anomaly syndrome with, as the most distinctive features extreme micrognathia and abnormal rib development. Twice a parent to child transmission was found, compatible with autosomal dominant mode of inheritance. One of our patients presented with absence of the auditory canals and subluxation of the radial head, and another with choanal atresia, findings that have not been published previously. Longterm follow-up of some of the patients is described, and an overview of the literature is given.
J J van den Ende; C Schrander-Stumpel; E Rupprecht; P Meinecke; P Maroteaux; C de Die-Smulders; B C Hamel
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  7     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-07-10     Completed Date:  1998-07-10     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  87-95     Citation Subset:  IM    
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
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MeSH Terms
Abnormalities, Multiple / genetics*
Brain / abnormalities*
Choanal Atresia / genetics
Cleft Palate / genetics
Ear Canal / abnormalities
Genes, Dominant
Hearing Loss, Conductive / genetics
Infant, Newborn
Micrognathism / genetics*
Radius / abnormalities
Ribs / abnormalities*

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

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