โ Scribed by Gorlin, Robert J.
No coin nor oath required. For personal study only.
1998] described an FGFR2 mutation associated with what they describe as Antley-Bixler syndrome. Antley-Bixler syndrome comprises craniosynostosis, deformed pinnae, elongated hands and feet, multiple ligamentous contractures of digits, and radiohumeral synostosis with frequent congenital fractures of the femur. Although the patient described by Chun et al. has some of those manifestations, I would suggest that it represents not Antley-Bixler syndrome but one of the group of FGFR2 mutations that range from Crouzon syndrome through Apert syndrome through Pfeiffer syndrome through Jackson-Weiss syn-drome through nonspecific autosomal dominant craniosynostosis.
๐ SIMILAR VOLUMES
The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic criteria. The inheritance has been suggested to be autosomal recessive based on two families with sib recurrence with both sexes being affected, and two cases born to consang