BMJ Case Reports 2013; doi:10.1136/bcr-2013-201242
Non-syndromic brachydactyly, known as Shamoji-yubi or Mamushi-yubi in Japan
Takeshi Saraya1, Masae Ariga2, Aika Kato2, Hajime Goto1
1Department of Respiratory Medicine, Kyorin University, Mitaka, Japan
2Department of General Medicine, Jiundo Naika Hospital, Nerima, Tokyo, Japan
Correspondence to
Dr Takeshi Saraya
Description
A 67-year-old previously healthy woman was referred following an annual physical check-up. Physical examination was normal except for a short distal phalanx (SDP) of the right thumb with a broad tip (figure 1A). Furthermore, on the lateral view (figure 1B), the pulp of the right thumb was larger than that of the left, and had the appearance of a viper. Interestingly, her family pedigree showed that the inheritance pattern was a single autosomal dominant gene with incomplete penetrance (figure 2), and individuals had brachydactyly
Non-syndromic brachydactyly, known as Shamoji-yubi or Mamushi-yubi in Japan
Takeshi Saraya1, Masae Ariga2, Aika Kato2, Hajime Goto1
1Department of Respiratory Medicine, Kyorin University, Mitaka, Japan
2Department of General Medicine, Jiundo Naika Hospital, Nerima, Tokyo, Japan
Correspondence to
Dr Takeshi Saraya
Description
A 67-year-old previously healthy woman was referred following an annual physical check-up. Physical examination was normal except for a short distal phalanx (SDP) of the right thumb with a broad tip (figure 1A). Furthermore, on the lateral view (figure 1B), the pulp of the right thumb was larger than that of the left, and had the appearance of a viper. Interestingly, her family pedigree showed that the inheritance pattern was a single autosomal dominant gene with incomplete penetrance (figure 2), and individuals had brachydactyly
