Article
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
American journal of medical genetics. Part A - 1 Oct 2014
Mitsui Toshikatsu, Kim Ok-Hwa, Hall Christine M, Offiah Amaka, Johnson Diana, Jin Dong-Kyu, Toh Teck-Hock, Soneda Shun, Keino Dai, Matsubayashi Shohei, Ishii Tomohiro, Nishimura Gen, Hasegawa Tomonobu
Abstract excerpt
Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup-shaped, large metaphyses known as metaphyseal scypho ("scypho" = cup) deformity. It is also associated with severe growth retardation and brachydactyly. The underlying molecular mechanism of acroscyphodysplasia has not yet been elucidated, although...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.