(1997) Rhizomelic
chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Finally, the patient was treated for precocious puberty due to 11-[beta]-hydroxilase deficiency and Schmid metaphyseal
chondrodysplasia. After 5 months, testosterone level decreased to lower than 10 ng/dl and DHEA reached 27 mcg/dl.
Cervical spinal stenosis, which in some cases leads to cord compression and myelopathy, has been described in
chondrodysplasia punctate of rhizomelic, brachytelephalangic, and Conradi-Hunermann types [13].
The type II colagenpathies: A spectrum of
chondrodysplasias. Eur J Pediatr 1994; 153:56-65.
A genome wide association study and fine mapping for
Chondrodysplasia of Texel sheep.
Cartilage hair hypoplasia (CHH) or metaphyseal
chondrodysplasia was first described among Old Order Amish by McKusick et al.
Opsismodysplasia: a new type of
chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.
We present another family that showed typical symptoms of Grebetype
chondrodysplasia which segregated with a mutation in CDMP1.
INTRODUCTION: Rhizomelic
chondrodysplasia punctata (RCDP) is a rare disorder of peroxisomal metabolism with an estimated incidence of 1:1, 00, 000.
SOX5/SOX6 double-knockout mice show evidence of a severe, generalized
chondrodysplasia indicating redundant functions of both transcriptor factors in chondrogenic differentiation [77].
Cystic transformation of the pancreas has also been described in a variety of congenital syndromes (187) including Ivemark syndrome, trisomy 13 or 15, Meckel-Gruber syndrome, Elejalde syndrome, glutaric aciduria,
chondrodysplasia, short-rib polydactyly syndrome (Jeune syndrome and Saldino-Noonan type), (188) and others with no specific name.
AO-II is a lethal
chondrodysplasia caused by collapse of the airways, resulting from abnormalities in the tracheal, laryncheal, and bronchial cartilage.