Rubinstein‐Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4‐year follow‐up until improvement of dysbasia

• Gan Muneuchi

• Tetsukuni Kogure

• Norihisa Sano

• Yusuke Hamamoto

• Yuka Kishikawa

• Motoki Tamai

• Hiroharu H Igawa

書誌事項

タイトル別名

• Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia

抄録

ABSTRACT  Rubinstein-Taybi syndrome (RTS), also known as ‘broad thumbs syndrome’ or ‘broad thumb-hallux syndrome’, is a malformation syndrome characterized by the triad of broad thumbs or first toes, a peculiar facial expression called ‘comical face’ and mental retardation. Although various malformations are combined with the triad, polydactyly is rare. We treated a male patient with RTS complicated by postaxial polydactyly of the foot. His clinical course was different from typical patients with polydactyly, especially in the aspect of walking development. Osteoplasty-combined surgery, which was ideal for anatomical reconstruction, was performed on the patient at 2 years and 11 months of age. A 4-year follow-up period was required until there was an improvement of dysbasia.

収録刊行物

• 日本先天異常学会会報

  日本先天異常学会会報 45 (2), 65-66, 2005

  日本先天異常学会

キーワード

• Developmental Biology
• Embryology
• General Medicine
• Pediatrics, Perinatology and Child Health

詳細情報

• CRID: 1390851883593388288
• NII論文ID: 10018085700
• NII書誌ID: AN10066760
• DOI: 10.24540/cgafa.45.2_65
• DOI: 10.1111/j.1741-4520.2005.00066.x
• ISSN: 24331503
• ISSN: 17414520
• ISSN: 00372285
• ISSN: 09143505
• Web Site: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1741-4520.2005.00066.x
• Web Site: https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1741-4520.2005.00066.x
• Web Site: https://search.jamas.or.jp/link/ui/2006277951
• 本文言語コード: en
• データソース種別:
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  • Crossref
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