Srpski arhiv za celokupno lekarstvo 2013 Volume 141, Issue 9-10, Pages: 676-679
https://doi.org/10.2298/SARH1310676R
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Pseudoachondroplasia: A case report
Radlović Vladimir (Univerzitetska dečja klinika, Beograd)
Smoljanić Željko (Univerzitetska dečja klinika, Beograd)
Radlović Nedeljko (Univerzitetska dečja klinika, Beograd + Medicinski fakultet, Beograd)
Jakovljević Miroslav (Institut za zdravstvenu zaštitu dece i omladine Vojvodine, Novi Sad)
Leković Zoran 
(Univerzitetska dečja klinika, Beograd)
Dučić Siniša (Univerzitetska dečja klinika, Beograd + Medicinski fakultet, Beograd)
Pavićević Polina (Univerzitetska dečja klinika, Beograd + Medicinski fakultet, Beograd)
Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant
osteochondrodysplasia due to mutations in the gene encoding cartilage
oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb
and vertebral deformity, joint laxity and early onset osteoarthrosis. We
present the girl with the early expressed and severe PSACH born to clinically
and radiographically unaffected parents. Case Outline. A 6.5-year-old girl
presented with short-limbed dwarfism (body height 79.5 cm,
Keywords: pseudoachondroplasia, rhizomelic dwarfism, osteochondrodysplasias