Document Detail


Kantaputra mesomelic dysplasia: a second reported family.
MedLine Citation:
PMID:  15211647     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present the clinical and radiographic findings in a mother and son with a dominantly inherited mesomelic skeletal dysplasia almost identical to that described in a large Thai family by Kantaputra et al., in which ankle, carpal and tarsal synostoses were noted. The proband in the family is a 48-year-old woman with mesomelic limb shortening, most pronounced in the upper limbs. Her parents were of normal stature and build. Her 15-year-old son has similar mesomelic limb shortening, and in addition talipes equinovarus. Radiological examination showed severe shortening of the radius and ulna with bowing of the radius and dislocation of the radial head. Multiple carpal and tarsal synostoses were present and in addition, the talus and calcaneum were fused. In the original Thai family, linkage to chromosome 2q24-q32, which contains the HOXD cluster has been reported, and it is postulated that the phenotype may result from a disturbance of regulation of the HOXD cluster. Although linkage analysis was not possible in our family, molecular analysis was undertaken and HOXD11 was sequenced, however, no mutations were detected. This is only the second reported family affected with Kantaputra mesomelic dysplasia (MIM 156232), a distinct mesomelic skeletal dysplasia.
Authors:
Deborah J Shears; Amaka Offiah; Paul Rutland; Tony Sirimanna; Maria Bitner-Glindzicz; Christine Hall
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  128A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jul 
Date Detail:
Created Date:  2004-06-22     Completed Date:  2004-12-22     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:  6-11     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Affiliation:
Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 3EH, United Kingdom.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Ankle / abnormalities
Body Height
Bone Diseases, Developmental / genetics*,  radiography
Carpal Bones / abnormalities
Chromosomes, Human, Pair 2*
DNA Mutational Analysis
Female
Humans
Male
Middle Aged
Pedigree
Phenotype
Syndrome
Tarsal Bones / abnormalities

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


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