Campomelic dysplasia associated with mandibular clefting

ASLAN Y., Erduran E., MOCAN H., SOYLU H., GEDIK Y.

GENETIC COUNSELING, cilt.7, sa.1, ss.17-20, 1996 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7 Sayı: 1
  • Basım Tarihi: 1996
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL
  • Sayfa Sayıları: ss.17-20
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

Campomelic dysplasia (CD), is a lethal dwarfism of the newborn, characterised by rhizomelic dwarfism, bowed femora and tibiae, associated with other skeletal and extraskeletal defects. It is suggested that there are long-limbed and short-limbed varieties. Various clinical and radiological anomalies have been described in both types of CD. Here, we describe for the first time a cleft in the mandibula in a patient with campomelic dysplasia.