ORO-PALATAL DYSPLASIA BETTEX-GRAF - A NEW SYNDROME

Citation
M. Bettex et al., ORO-PALATAL DYSPLASIA BETTEX-GRAF - A NEW SYNDROME, European journal of pediatric surgery, 8(1), 1998, pp. 4-8
Citations number
12
Categorie Soggetti
Surgery,Pediatrics
ISSN journal
09397248
Volume
8
Issue
1
Year of publication
1998
Pages
4 - 8
Database
ISI
SICI code
0939-7248(1998)8:1<4:ODB-AN>2.0.ZU;2-B
Abstract
Four cases of an until now undescribed syndrome have been observed in Berne in the last 40 years. All four cases are members of the same fam ily and have occurred in three consecutive generations. They present w ith a U-shaped palatal cleft, microstomia, hypoplasia of the mandibula and a partial anodontia. An autosomal dominant heredity was demonstra ted. Karyograms have been made in three of the patients and in all pat ients showed an anomaly in the form of a ''fragile site'' in one chrom osome (16 fra 16 [q22]). Surgical and orthopedic treatments were diffi cult.