Schmid tip metafizyel kondrodisplazi
Author(s) -
Murat Hızarcıoğlu,
Pamir Gülez,
Deniz Tırak,
Tuna Günhan
Publication year - 2013
Publication title -
bakirkoy tip dergisi / medical journal of bakirkoy
Language(s) - English
Resource type - Journals
eISSN - 1305-9327
pISSN - 1305-9319
DOI - 10.5350/btdmjb201309308
Subject(s) - psychology
Schmid type metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia is characterized by moderate flaring and irregularity of the metaphyses, but a normal spine and short stature. It is due to mutation of the gene encoding type 10 collogen (COL10AI). Radiologic features include an enlarged proximal femoral epiphysis in early childhood, coxa vara, greather involvement of the distal femoral metaphysis than the proximal, anterior rib changes and normal spine. The radiographic changes are similar to rickets, but calcium and phosphorus metabolism is normal. In this report, we presented a 22 month old male patient who had clinic and radiological findings mimic rickets but with the laboratuary findings
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