Mesomelic dwarfism in pseudoachondroplasia.
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.
Song
Hae-Ryong
HR
Department of Orthopaedic Surgery, Korea University Guro Hospital, Seoul, Korea.
Li
Qi-Wei
QW
Oh
Chang-Wug
CW
Lee
Kwang-Soo
KS
Koo
Soo Kyung
SK
Jung
Sung-Chul
SC
D000130:Achondroplasia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D064236:Cartilage Oligomeric Matrix Protein; D002648:Child; D004392:Dwarfism / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D020125:Mutation, Missense; D011859:Radiography; D018570:Risk Assessment; D012494:Sampling Studies; D012720:Severity of Illness Index
D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human