Campomelic dysplasia associated with mandibular clefting
GENETIC COUNSELING, cilt.7, sa.1, ss.17-20, 1996 (SCI-Expanded, Scopus)
- 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.