Denouement and Discussion
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
Butler MG, Hassell S, Feingold M, Tunnessen WW. Picture of the Month. Am J Dis Child. 1991;145(6):701–702. doi:10.1001/archpedi.1991.02160060119033
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