parastremmatic dwarfism

parastremmatic dwarfism2016-11-27T16:07:12+00:00

parastremmatic dwarfism

PAEDIATRICS

An über rare autosomal dominant bone dysplasia (OMIM:168400) characterised by severe dwarfism, kyphoscoliosis, bowing of extremities, and contractures of large joints. The heart and cardiovascular system, eyes and IQ are normal.

Imaging Decreased bone density, bowing of long bones, platyspondyly and striking irregularities of endochondral ossification with calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses

Molecular pathology Defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure, cause parastremmatic dwarfism.

Synonym Metatropic dwarfism 

References http://www.uniprot.org/uniprot/Q9HBA0

http://omim.org/entry/168400

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