[Antley-Bixler syndrome. Description of two new cases and review of the literature. Prognostic and therapeutic aspects].
Antley-Bixler syndrome was first described in 1975, and to date, 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped nose", dysplasic ears, and occasionally urogenital or cardiac defects. Survival is closely linked to upper airway obstruction, which also affects (with craniosynostosis) mental prognosis. Association and severity of malformations are variable, and while numerous children have died early from respiratory distress, one third of them are alive, and have had quite satisfactory development. With early and effective prevention of respiratory complications, and early treatment of craniosynostosis, overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive and midtrimester prenatal diagnosis is feasible; genetic counseling depends on accurate prognostic and therapeutic data. We describe 2 further cases. The first a 4 years old male, with unilateral coronal synostosis and radiohumeral synostosis predominating on the same side. The second an 18 months old female, with brachycephaly and an imperforate anus.
Unité de Chirurgie Craniofaciale, Hôpital Necker Enfants-Malades, Paris.
L
L
Bottero
G
G
Cinalli
P
P
Labrune
E
E
Lajeunie
D
D
Marchac
D
D
Renier
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000601:surgery*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Le syndrome d'Antley-Bixler. Description de deux nouveaux cas et revue de la littérature. Eléments pronostiques et thérapeutiques.