Literature DB >> 9266195

Axial spondylometaphyseal dysplasia.

S Ehara1, O H Kim, S Maisawa, Y Takasago, G Nishimura.   

Abstract

UNLABELLED: We present a previously undescribed skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac wings. Two of the three cases were siblings. Retinitis pigmentosa and optic atrophy are associated findings.
CONCLUSION: We describe a new type of spondylometaphyseal dysplasia (SMD) and propose the name axial SMD.

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Year:  1997        PMID： 9266195     DOI： 10.1007/s004310050679

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  3 in total

Review 1.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374

2.  Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Authors:  Julie Hoover-Fong; Nara Sobreira; Julie Jurgens; Peggy Modaff; Carrie Blout; Ann Moser; Ok-Hwa Kim; Tae-Joon Cho; Sung Yoon Cho; Sang Jin Kim; Dong-Kyu Jin; Hiroshi Kitoh; Woong-Yang Park; Hua Ling; Kurt N Hetrick; Kimberly F Doheny; David Valle; Richard M Pauli
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

3.  Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Authors:  Zheng Wang; Aritoshi Iida; Noriko Miyake; Koji M Nishiguchi; Kosuke Fujita; Toru Nakazawa; Abdulrahman Alswaid; Mohammed A Albalwi; Ok-Hwa Kim; Tae-Joon Cho; Gye-Yeon Lim; Bertrand Isidor; Albert David; Cecilie F Rustad; Else Merckoll; Jostein Westvik; Eva-Lena Stattin; Giedre Grigelioniene; Ikuyo Kou; Masahiro Nakajima; Hirohumi Ohashi; Sarah Smithson; Naomichi Matsumoto; Gen Nishimura; Shiro Ikegawa
Journal:  PLoS One       Date:  2016-03-14       Impact factor: 3.240
  3 in total

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