Peripheral dysostosis

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Short metacarpal

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.


Total: 1

                      


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PMID (PMCID)
23933701
MALE
Acrodysostosis associated with hypercalcemia.
Kirnap M, Calis M, Gokce C, Kurtoglu S, Ozturk M, Kelestimur F.
Hormones (Athens). 2013;12(2):309-11.
X-ray studies revealed broad, short metacarpals and phalanges with cone-shaped epiphyses and brachycdactyly and a diagnosis of peripheral dysostosis was confirmed by the characteristic radiographic appearance of the hands.