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Mandibulofacial Dysostosis

1964; American Medical Association; Volume: 107; Issue: 3 Linguagem: Inglês

10.1001/archpedi.1964.02080060306016

2374-3018

MALCOLM H. MOSS,

dental development and anomalies

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