ISSN:
1433-0350
Keywords:
Key words Antley-Bixler syndrome
;
Plagiocephaly
;
Imperforate anus
;
Choanal stenosis or atresia
;
Craniosynostosis
;
Prognosis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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, dysplastic ears and, occasionally, urogenital or cardiac defects. Survival is closely linked to upper airway obstruction. This, in addition to craniosynostosis, also affects mental prognosis. The cluster of malformations and their severity 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, the 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 two new cases, a 4-year-old boy with unilateral coronal synostosis and radio-humeral synostosis on the same side and an 18-month-old girl with brachycephaly and imperforate anus.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s003810050082
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