Mandibulo-facial dysostosis. A familial study.

MANDIBULO-FACIAL dysostosis is the name given by Franceschetti and Zwahlen (1944) and Franceschetti and Klein (1949) to a complex of symptoms which together comprise a congenital oro-facial syndrome (Wildervanck, 1960). Franceschetti and Klein (1949) reviewed the literature and described the typical characteristics of the syndrome as follows: (1) Antimongoloid palpebral fissures with either a notch or coloboma of the outer third of the lower lid, and occasional absence or paucity of the lashes of the lower lid. (2) Hypoplasia of the facial bones, especially the malar bones and mandible. (3) Malformation of the external ear, and occasionally of the middle and inner ear, with low implantation of the auricle. (4) Macrostomia, high palate, mal-occlusion and abnormal position of the teeth. (5) A typical hair growth in the form oftongue-shaped processes ofthe hair-line extending towards the cheeks in the pre-auricular region. (6) Association at times with other anomalies, such as obliteration of the naso-frontal angle, pits or clefts between the mouth and ear, and skeletal deformities. Since this description was published, some of these features have come to be regarded as being of lesser importance and some have been emphasized in the diagnosis. Thus Axelsson, Brolin, Engstrom, and Liden (1963) named the following features as "obligatory": (1) Antimongoloid palpebral fissures. (2) Anomaly of the lower lid: coloboma of the outer third, or deficient lashes, or both. (3) Hypoplasia of the malar bones. (4) Hypoplasia of the mandible.