Campomelic dysplasia associated with mandibular clefting

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

GENETIC COUNSELING, vol.7, no.1, pp.17-20, 1996 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 1
  • Publication Date: 1996
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL
  • Page Numbers: pp.17-20
  • Karadeniz Technical University Affiliated: Yes

Abstract

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.