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June 1991

Picture of the Month

Am J Dis Child. 1991;145(6):701-702. doi:10.1001/archpedi.1991.02160060119033

Denouement and Discussion 

Antley-Bixler Syndrome 

Manifestations  Major manifestations include craniosynostosis, a characteristic facial appearance, choanal atresia/stenosis, radiohumeral synostosis, bowing of femurs with fractures, and multiple joint contractures.Craniofacial abnormalities consist of brachycephaly secondary to craniosynostosis of the coronal and lambdoidal sutures; large anterior fontanelle; and a face characterized by frontal bossing, flat facies, severe midface hypoplasia, proptosis, flattened nasal bridge, pear-shaped nose, choanal stenosis/atresia, long philtrum, and small, dysplastic ears.Skeletal abnormalities include radiohumeral synostosis, anterior bowing of femurs with neonatal fractures, medial bowing of ulnas, narrow iliac wings, arachnodactyly with distal tapering of digits, camptodactyly, and scoliosis. Other occasional abnormalities are

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