1M. Sc(N) II nd Year, Child Health Nursing Department, St. Xavier's Catholic College of Nursing, Nagercoil
2Asst. Prof, Child Health Nursing Department, St. Xavier's Catholic College of Nursing, Nagercoil
Online published on 4 December, 2018.
Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondroplasia, due to mutations in the gene encoding cartilage oligometric matric protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformities, joint laxity and early onset osteoarthrosis. We here, presenting a boy with the early expressed and severe pseudoachondroplasia born to a clinically and radiographically unaffected parents.
Osteochondroplasia, Rhizomelic dwarfism, osteoarthosis
