Document Detail


Humeroradial synostosis and the multiple synostosis syndrome: case report.
MedLine Citation:
PMID:  12703033     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Humeroradial synostosis may occur sporadically or as an extremely rare inheritable disorder. The current classification divides cases into class I (fixed in extension with ulnar ray hypoplasia) or class II (fixed in flexion without hypoplasia). Familial cases of class II synostosis segregate into autosomal recessive and autosomal dominant groups. Autosomal recessive pedigrees are heterogeneous. However, when inherited as an autosomal dominant some cases of humeroradial synostosis demonstrate striking similarities limited to the musculoskeletal system: class II humeroradial synostosis, proximal symphalangism, short first metacarpal and metatarsal bones, carpal and tarsal coalitions and a prominent nasal bridge. We believe that when class II humeroradial synostosis is associated with these features, the primary diagnosis is the multiple synostosis syndrome. Furthermore, a prominent nasal bridge is present in the neonate and may aid diagnosis at this stage. We illustrate these findings with the case of a mother and only child, both demonstrating class II humeroradial synostosis and features characteristic of the multiple synostosis syndrome.
Authors:
James D McIntyre; Adam Brooks; Michael K Benson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric orthopedics. Part B     Volume:  12     ISSN:  1060-152X     ISO Abbreviation:  J Pediatr Orthop B     Publication Date:  2003 May 
Date Detail:
Created Date:  2003-04-18     Completed Date:  2003-10-02     Revised Date:  2012-09-17    
Medline Journal Info:
Nlm Unique ID:  9300904     Medline TA:  J Pediatr Orthop B     Country:  United States    
Other Details:
Languages:  eng     Pagination:  192-6     Citation Subset:  IM    
Affiliation:
Nuffield Orthopaedic Centre, Oxford, England, UK. james_mcintyre@btinternet.com
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  genetics*,  surgery
Adult
Female
Humans
Humerus / abnormalities*
Infant, Newborn
Pedigree*
Radius / abnormalities*
Syndrome
Synostosis / diagnosis,  genetics*,  surgery

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


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