Total anonychia congenita: A rare heterogeneic disorder


Ozdemir O., Tiftikcioglu Y., Karaaslan O., Ozdemir R., Kocer U.

GENETIC COUNSELING, cilt.15, sa.1, ss.43-46, 2004 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 1
  • Basım Tarihi: 2004
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.43-46
  • Anahtar Kelimeler: anonychia, congenital anomaly, nail, onychodystrophy, NORMAL INTELLIGENCE
  • Ankara Üniversitesi Adresli: Hayır

Özet

Total anonychia congenita is a very rare disorder in which all the finger nails and the toenails are absent without significant bone anomalies. This condition is reported to have an autosomal dominant inheritance pattern. There are a variety of syndromes or conditions associated with anonychia congenita. In this study we present a monozygotic twin with isolated anonychia congenita totalis. Interestingly there is no family history of anonychia and this condition seems to be caused by a sporadic mutation.