Document Detail

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.
MedLine Citation:
PMID:  12476458     Owner:  NLM     Status:  MEDLINE    
Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has been reported by several authors. The majority of cases are unilateral. When both upper limbs arms are involved, cases with oligodactyly often have asymmetrical limb deficiencies and have all been sporadic to date. Some appear to represent cases of the femur-fibula-ulna or FFU complex. Affected individuals with normal hands usually have symmetrical defects and show an autosomal recessive pattern of inheritance. Limb deficiencies have been reported in several infants exposed prenatally to cocaine and have been inducible in animal models. Most are terminal transverse defects or deficiencies of middle digits. When more than one limb is involved, the defects are usually asymmetric. Our case appears to be one of the most severely affected children reported to date.
Sandra L Marles; Martin Reed; Jane A Evans
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  116A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2002-12-11     Completed Date:  2003-05-30     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  85-9     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
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MeSH Terms
Abnormalities, Drug-Induced*
Abnormalities, Multiple / chemically induced,  pathology*
Child, Preschool
Cocaine / adverse effects*
Ectromelia / pathology
Fingers / abnormalities
Humerus / abnormalities
Prenatal Exposure Delayed Effects*
Radius / abnormalities
Syndactyly / pathology
Synostosis / pathology*
Ulna / abnormalities*
Reg. No./Substance:

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

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