Mandibulofacial dysostosis (Treacher Collins syndrome) is a complex of congenital defects involving the face, eyelids, and ears. The "complete form" of the syndrome includes: (1) an antimongoloid slant of the palpebral fissures; (2) colobomata of the eyelids; (3) hypoplasia of the facial bones (particularly the malar bones and the mandible); (4) malformations of the external ear and, occasionally, of the middle and inner ear; and (5) malocclusion of the teeth, high-arched palate, and macrostomia. Case reports of patients with all these deformities are relatively rare; more often individuals with fewer anomalies are described. Complete, incomplete, abortive, unilateral, and atypical types have been recognized.1
Within the past three years it has been established that numerical abnormalities of chromosomes can cause a genetic imbalance which results in clinically recognizable syndromes. It is well documented that Down's syndrome (mongolism),2 Turner's syndrome,3 Klinefelter's syndrome,4 trisomy 17-18,5 and trisomy 13-15
MOSS MH, SAPHIR RL, GOTTLIEB MI. Mandibulofacial Dysostosis: Report of Two Cases With Chromosome Analysis. Am J Dis Child. 1964;107(3):304–307. doi:https://doi.org/10.1001/archpedi.1964.02080060306016
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: