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Kantaputra mesomelic dysplasia: a second reported family
Deborah J Shears1, Amaka Offiah, Paul Rutland
1Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 3EH, United Kingdom.
American Journal of Medical Genetics. Part A
|June 24, 2004
Summary
This study details Kantaputra mesomelic dysplasia in a mother and son, exhibiting limb shortening and joint fusions. Genetic analysis did not reveal mutations in HOXD11, suggesting other regulatory mechanisms for this rare skeletal dysplasia.
Area of Science:
- Genetics
- Orthopedics
- Medical Genetics
Background:
- Mesomelic skeletal dysplasias are a group of rare genetic disorders characterized by disproportionate shortening of the limbs.
- Kantaputra mesomelic dysplasia (MIM 156232) is a rare, dominantly inherited form previously described in a Thai family.
Observation:
- A mother and son presented with clinical and radiographic findings consistent with Kantaputra mesomelic dysplasia.
- The proband, a 48-year-old woman, displayed mesomelic limb shortening, most severe in the upper limbs.
- Her 15-year-old son had similar limb shortening, talipes equinovarus, radial head dislocation, and fused ankle and carpal bones.
Findings:
- Radiographic examination revealed severe shortening and bowing of the radius and ulna, with multiple carpal and tarsal synostoses, including talocalcaneal fusion.
- Previous studies linked this dysplasia to chromosome 2q24-q32, suggesting HOXD gene cluster dysregulation.
- Molecular analysis of the HOXD11 gene in this family did not identify any mutations.
Implications:
- This is the second reported family with Kantaputra mesomelic dysplasia, highlighting its rarity and distinct phenotype.
- The absence of HOXD11 mutations suggests that other genes or regulatory elements within the HOXD cluster may be involved.
- Further research is needed to elucidate the genetic basis of this skeletal dysplasia and its underlying pathogenic mechanisms.