Document Detail

Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.
MedLine Citation:
PMID:  998829     Owner:  NLM     Status:  MEDLINE    
Frontometaphyseal dysplasia is a syndrome that encompasses cranial hyperostosis, abnormal tubulation of cylindrical bones, and other skeletal and extraskeletal abnormalities. The most striking features are overgrowth of the supraorbital ridges which results in a Mephistophelian facial appearance and a radiographic configuration of the skull that has been likened to a soldier's helmet. Most patients have severe hearing loss, defective dentition, poorly developed musculature, and joint contractures. Dominant inheritance has been suggested in previous reports, but an appropriate pedigree has been documented in only one family. This paper describes three additional patients in two unrelated families: (1) an 8-year-old boy whose mother has mild metaphyseal dysplasia and several minor skeletal abnormalities that have occurred in patients with the syndrome; and (2) two maternal half-brothers. These cases provide additional evidence that frontometaphyseal dysplasia is an autosomal dominant trait with variable penetrance.
E G Kassner; J O Haller; V H Reddy; A Mitarotundo; I Katz
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  AJR. American journal of roentgenology     Volume:  127     ISSN:  0361-803X     ISO Abbreviation:  AJR Am J Roentgenol     Publication Date:  1976 Dec 
Date Detail:
Created Date:  1977-01-25     Completed Date:  1977-01-25     Revised Date:  2008-02-15    
Medline Journal Info:
Nlm Unique ID:  7708173     Medline TA:  AJR Am J Roentgenol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  927-33     Citation Subset:  AIM; IM    
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MeSH Terms
Abnormalities, Multiple
Bone Diseases, Developmental / genetics*,  radiography
Micrognathism / radiography
Skull / abnormalities,  radiography

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

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