Mesomelic dwarfism in pseudoachondroplasia

Hae Ryong Song, Qi Wei Lib, Chang Wug Oh, Kwang Soo Lee, Soo Kyung Koo, Sung Chul Jung

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Pseudoachondroplasia (PSACH) is associated with mutations in the cartilage oligomeric matrix protein (COMP) gene and the clinical characteristics include short stature, deformities of the extremities involving the epiphyses and metaphyses, early onset arthritis, and ligament laxity. PSACH has been considered a rhizomelic form of dwarfism. So far no previous report has described mesomelic shortening of the limbs in PSACH. We reviewed nine patients with a diagnosis of PSACH based on clinical and radiographic examination and mutation analysis of the COMP gene. The mean height in the adults was 116 cm. All patients showed mesomelic dwarfism. The average ratios of radial length to humeral length and tibial length to femoral length were 0.62 and 0.63, respectively. The tibia and the radius showed more severe bony deformity than the femur and humerus. The degree of short stature was related to the site of the mutation in the COMP gene, but there was no correlation between bony deformity and height or gene mutation.

Original languageEnglish
Pages (from-to)340-344
Number of pages5
JournalJournal of Pediatric Orthopaedics Part B
Volume13
Issue number5
DOIs
Publication statusPublished - 2004 Sep

Keywords

  • Cartilage oligomeric matrix protein
  • Mesomelic dwarfism
  • Pseudoachondroplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Orthopedics and Sports Medicine

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