angel-shaped phalango-epiphyseal dysplasia

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angel-shaped phalango-epiphyseal dysplasia2016-11-24T20:00:23+00:00

angel-shaped phalango-epiphyseal dysplasia

angel-shaped phalangoepiphyseal dysplasia image from New Medical Terms

angel-shaped phalangoepiphyseal dysplasia

GENETICS

An autosomal dominant skeletal malformation syndrome (OMIM:105835) characterised by a typical angel-shaped phalanx, brachydactyly, specific radiologic findings, abnormal dentition, hip dysplasia, and delayed bone age, all of which suggest that brachydactyly C and ASPED are part of the same clinical spectrum.

References www.genecards.org/cgi-bin/carddisp.pl?gene=GDF5

http://www.omim.org/entry/615072

image from Echo train, Resident, Ohio State University Medical Center, Ohio, USA

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