Document Detail

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia.
MedLine Citation:
PMID:  9375915     Owner:  NLM     Status:  MEDLINE    
Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a patient who, in addition to the clinical manifestations characteristic of the syndrome, showed esophageal atresia with distal tracheoesophageal fistula. Particular emphasis is given to the extraskeletal manifestations of the syndrome reported in the literature.
P Franceschini; A Guala; D Licata; D Franceschini; F Signorile; G Di Cara
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  73     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Nov 
Date Detail:
Created Date:  1998-01-23     Completed Date:  1998-01-23     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  10-4     Citation Subset:  IM    
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università di Torino, Turin, Italy.
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MeSH Terms
Abnormalities, Multiple / pathology*,  physiopathology
Craniofacial Abnormalities* / physiopathology
Esophageal Atresia* / physiopathology
Hand Deformities, Congenital
Osteochondrodysplasias / physiopathology
Skull / abnormalities
Spine / abnormalities
Tracheoesophageal Fistula* / physiopathology

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

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