PMID: 9550268Apr 29, 1998Paper

Oro-palatal dysplasia Bettex-Graf--a new syndrome

European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie
M BettexS Gerber-Huber

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 family and have occurred in three consecutive generations. They present with a U-shaped palatal cleft, microstomia, hypoplasia of the mandibula and a partial anodontia. An autosomal dominant heredity was demonstrated. Karyograms have been made in three of the patients and in all patients showed an anomaly in the form of a "fragile site" in one chromosome (16 fra 16 [q22]). Surgical and orthopedic treatments were difficult.

Citations

Oct 5, 2016·Human Genetics·M PhanC E L Carels

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