PEDIATRICS Vol. 61 No. 1 January 1978, pp. 12-15
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Craniosynostosis Associated With Limb Reduction Malformations and Cleft Lip/Palate: A Distinct Syndrome

Roger L. Ladda M.D.1, Elam Stoltzfus M.D.1, Stanley L. Gordon M.D.1, and William P. Graham M.D.1

1 Division of Genetics, Department of Pediatrics, and the Divisions of Orthopedic Surgery and Plastic Surgery, Department of Surgery, The Pennsylvania State University College of Medicine, Hershey

Craniosynostosis associated with short stature, radial and fibular aplasia, and cleft lip and/or palate represents a distinct syndrome. One original case and one previously undiagnosed case from the literature were found to have many distinct features in common, permitting them to be separated from craniosynostosis with radial or fibular aplasia, Robert's syndrome, pseudothalidomide or SC syndrome, and the hypomelia-hypotrichosis-facial hemangioma syndrome. Each had multiple craniofacial abnormalities: dysplastic ears, hypertelorism, strabismus, and malocclusion. Ulnae and humeri were hypoplastic; tibiae were bowed and hypoplastic. Testes were small. Associated mild to moderate mental retardation may be related to early institutionalization.

Submitted on November 24, 1976
Accepted on April 11, 1977