Syndromes Involving Craniosynostosis and Midface Hypoplasia

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Hippocrates probably first described craniostenosis in 100 bc. He noted abnormal calvarial appearances and associated these malformations with the pattern of cranial suture involvement. Celsus (25 bc to ad 50) described skulls without sutures but failed to give specific details. A Greek physician at the time of the Emperor Julian, Oribasios, reported cranial deformities in association with palatine deformities. In 1557, Lycosthene described an infant with deformities of the skull and limbs; presumably, this condition was acrocephalosyndactyly, which was described further in 1906 by Apert. In 1912, Crouzon described a mother and daughter, who had the same malformation of the face and head and coined the term hereditary craniofacial dysostosis. In 1866, Von Graefe described an association between craniostenosis and blindness; Friedenwald (1893)29 and Meltzer (1908)48 established the association between craniosynostosis and optic atrophy.

Craniosynostosis is a term that describes premature fusion of one or more sutures in the cranial vault. This condition can present in two ways— as an isolated finding or in association with a multitude of other clinical entities (i.e., syndromic craniosynostosis). This article discusses the genetics, presentation, and management of syndromic craniosynostoses and their associated midfacial hypoplasia. The most common craniofacial synostosis syndromes are Apert's syndrome, Crouzon's syndrome, Pfeiffer's syndrome, Saethre-Chotzen syndrome, and Carpenter's syndrome.

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Address reprint requests to Joseph G. McCarthy, MD, Institute of Reconstructive Plastic Surgery, Variety Center for Craniofacial Rehabilitation, New York University Medical Center, H–169, 560 First Avenue, New York, NY 10016