Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations.
We report a Japanese family with Greig cephalopolysyndactyly syndrome (GCPS), in which the grandmother, mother, and daughter were affected. They each had the same characteristics including bilateral seven toes, hypertelorism, and esotropia. Bilateral seven toes and esotropia had followed over three generations and have not previously been reported in this syndrome. The present case with bilateral seven toes and esotropia may be a new type.
Muneuchi
Gan
G
Department of Plastic and Reconstructive Surgery, Kagawa University, Kagawa, Japan. muneuchi@med.kagawa-u.ac.jp
Suzuki
Shigehiko
S
Sato
Miki
M
Tamai
Motoki
M
Igawa
Hiroharu H
HH
D000328:Adult; D044466:Asian People / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004948:Esotropia / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics*