Autosomal dominant and recessive osteochondrodysplasias
associated with the COL11A2 locus.
Pseudoachondroplasia is part of the osteochondrodysplasias
, a group of disorders characterized by bone and cartilage maldevelopment.
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia
. Am J Med Genet 73:345-350.
Suspicion of fetal skeletal dysplasia (osteochondrodysplasia) is an indication for performing this examination.
The 18-23 week scan; osteochondrodysplasias. Available at: www.fetalmedicine.com/18-23scanbook/chapter/chap09-03.htm.
Mia has osteochondrodysplasia
, a congenital defect caused by the same gene that gives Scottish Folds their small, folded ears and is sadly very common.