Type e brachydactyly with short stature in a mother and her two daughters (A case report)
Ondokuz Mayis Universitesi Tip Dergisi, cilt.18, sa.3, ss.204-208, 2001 (Scopus, TRDizin)
- 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.