Open AccessPseudoachondroplasia: A case report
Author(s) -
Vladimir Radlović,
Željko Smoljanić,
Nedeljko Radlović,
Miroslav Jakovljevic,
Zoran Leković,
Siniša Dučić,
P M Pavicevic
Publication year - 2013
Publication title -
srpski arhiv za celokupno lekarstvo
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.135
H-Index - 17
eISSN - 2406-0895
pISSN - 0370-8179
DOI - 10.2298/sarh1310676r
Subject(s) - medicine
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom