chondrodysplasia punctata


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chondrodysplasia

 [kon″dro-dis-pla´zhah]
chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-Hünermann syndrome), and a milder X-linked form.

chon·dro·dys·pla·si·a punc·ta·'ta

[MIM*215105]
a developmental disorder characterized by epiphysial stippling, coronal clefting of the vertebrae, dwarfism with rhizomelic shortening of the limbs, joint contractures, congenital cataracts, ichthyosis, and mental retardation. Autosomal dominant and recessive and X-linked forms exist.

chondrodysplasia punctata

A clinically and genetically heterogeneous group of conditions characterised by skeletal defects and stippled epiphyses.

Chondrodysplasia punctata types
• Autosomal dominant chondrodysplasia punctate, MIM 118650.
• Conradi-Hünermann syndrome, MIM 302960.
• Rhizomelic chondrodysplasia punctate, MIM 215100, 222765.
• X-linked recessive chondrodysplasia punctate, MIM 302950.

chondrodysplasia punctata

A heterogeneous group of bone dysplasias, all of which have epiphyseal stippling in infancy
References in periodicals archive ?
Abbreviations: CG: complementation group; CHO: Chinese hamster ovary; DHAP-ATase: dihydroxyacetonephosphate acyltransferase; DLP1: dynamin-like protein 1; IRD: infantile Refsum disease; NALD: neonatal adrenoleukodystrophy; PBD: peroxisome biogenesis disorder; PMP: peroxisomal integral membrane protein; PTS: peroxisome-targeting signal; RCDP: rhizomelic chondrodysplasia punctata; ZS: Zellweger syndrome.
(1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat.
(1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
(2015) A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
DISCUSSION: Chondrodysplasia punctata (CDP) is a rarely occurring skeletal dysplasia characterized by stippled, punctate calcifications around joints and within cartilages.
Hall, "Chondrodysplasia punctata: a clinical diagnostic and radiological review," Clinical Dysmorphology, vol.
Incesu, "Case report: rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn," Turkish Journal of Diagnostic and Interventional Radiology, vol.
Cuillier, "Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency, " Clinical Dysmorphology, vol.
Chondrodysplasia punctata (CDP) is a rarely occurring skeletal dysplasia characterized by stippled, punctuate calcifications around joints and within cartilages [1].
In conclusion, cervical spinal stenosis is a rare anomaly in rhizomelic chondrodysplasia punctata cases, which may cause neurological findings.
Herzog, "Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature," Pediatrics, vol.
Differential diagnosis of TD includes homozygous achondroplasia, achondrogenesis, captomelic dwarfism, chondrodysplasia punctata, severe hypophosphatasia and severe osteogenesis imperfecta.

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