Type e brachydactyly with short stature in a mother and her two daughters (A case report)

Yıldıran A., Ökten A., Gedik Y.

Ondokuz Mayis Universitesi Tip Dergisi, cilt.18, sa.3, ss.204-208, 2001 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 3
  • Basım Tarihi: 2001
  • Dergi Adı: Ondokuz Mayis Universitesi Tip Dergisi
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.204-208
  • Anahtar Kelimeler: Short stature, Type E brachydactyly
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Type E brachydactyly is a digital malformation that characteristically causes an asymmetrical shortening of one or more metacarpals or metatarsals or both. Although commonly seen as part of a syndrome, it can be inherited as an autosomal dominant characteristic and has been classified into various patterns. Bilginturan et al firstly reported the brachydactyly-short stature-hypertension syndrome in a Turkish family. Schuster et al. mapped the gene causing this condition on 12p. We present a mother and her two daughters with mildly short stature-normal intelligence-normal blood pressure and Type E brachydactyly, and there was no chromosomal aberrations by using cytogenetical techniques.