type Schmid (MCDS), is a genetic condition caused by mutations in 'collagen X' which affects cell differentiation and bone growth.
The PBDs include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), which are called Zellweger syndrome spectrum, and rhizomelic chondrodysplasia
punctata (RCDP) (23),(24) (Table 2).
2,3,4,5,6,7,8,9,10) Less commonly, it has been reported with other disorders such as Lowe syndrome, Peter's anomaly, cri-du-chat syndrome, hyperlysinaemia, and rhizolemic form of chondrodysplasia
3) The Schmid metaphyseal chondrodysplasia
is characterized by short stature, but bone maturation process is normal.
We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia
The main differential diagnoses in patients of multiple BCCs are Gorlin syndrome, which shows multiple carcinomas basal cell nevi, and X-linked dominant chondrodysplasia
punctata, with prominent follicular atrophoderma.
Jude Peters is an adorable one-year-old boy living with a disease called rhizomelic chondrodysplasia
punctata (RCDP), a rare and fatal form of dwarfism.
Frameshift mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene and severe acromesomelicchondrodysplasia resembling grebe type chondrodysplasia
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
During my training in medical genetics, I worked with Dr Victor McKusick, just as he was becoming involved with Little People of America (LPA), to study chondrodysplasia
Over expression of Spry1 in chondrocytes causes attenuated FGFR ubiguitination and sustained ERK activation resulting in chondrodysplasia
New autosomal recessive chondrodysplasia