YAMAMOTO Toshiyuki    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor
論文種別	症例報告
言語種別	英語
査読の有無	査読なし
表題	Spondylometaphyseal dysplasia with cone-rod dystrophy.
掲載誌名	正式名：American Journal of Medical Genetics
巻・号・頁	155A(4),pp.845-849
著者・共著者	Hiroshi Kitoh, Hiroshi Kaneko, Mineo Kondo, Toshiyuki Yamamoto, Naoki Ishiguro, Gen Nishimura.
発行年月	2011/04
概要	The co-occurrence of skeletal dysplasia and ophthalmologic abnormality is extremely rare. We report on a boy of a unique form of spondylometaphyseal dysplasia associated with cone-rod dystrophy. He presented with postnatal severe short stature, progressive lower limb deformity with rhizomelic shortening of the long bones, prominent joints with limited mobility in knees and elbows, mild thoracic scoliosis, and vision impairment due to cone dystrophy. Correction of deformity and simultaneous limb lengthening was performed in bilateral femora and tibiae without major complications. Skeletal manifestations in addition to comprehensive ophthalmologic examinations were described in this patient who had been followed from infancy to 16 years of age.
DOI	10.1002