ANTLEY-BIXLER-SYNDROME - DESCRIPTION OF 2 NEW CASES AND A REVIEW OF THE LITERATURE

Antley-Bixler syndrome was first described in 1975, and to date 20 cas es have been reported. In addition to brachycephaly, the syndrome is a ssociated with midface hypoplasia, often with choanal stenosis or atre sia, bilateral radiohumeral synostosis, multiple joint contractures, f emoral bowing and long bone fractures, ''pear-shaped'' nose, dysplasti c ears and, occasionally, urogenital or cardiac defects. Survival is c losely linked to upper airway obstruction, This, in addition to cranio synostosis, also affects mental prognosis. The cluster of malformation s and their severity are variable, and while numerous children have di ed early from respiratory distress, one third of them are alive and ha ve had quite satisfactory development, With early and effective preven tion of respiratory complications and early treatment of craniosynosto sis, the overall prognosis can be favorable. The mode of inheritance i s probably autosomal recessive, and midtrimester prenatal diagnosis is feasible. Genetic counseling depends on accurate prognostic and thera peutic data. We describe two new cases, a 4-year-old boy with unilater al coronal synostosis and radiohumeral synostosis on the same side and an 18-month-old girl with brachycephaly and imperforate anus.