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Related to chondrodysplasia: Chondrodysplasia punctata
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Noun1.chondrodystrophy - an inherited skeletal disorder beginning before birthchondrodystrophy - an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
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Metaphyseal chondrodysplasia 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 punctata.
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.

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