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Hand abnormalities associated with craniofacial syndromes.

One in approximately every 626 newborns has a congenital anomaly of the upper limb. Frequently, patients with craniofacial syndromes may have associated hand anomalies. In this article, we try to answer why certain craniofacial syndromes have associated hand anomalies through an examination of the common factors in development and maldevelopment of these two very complex structures. In general, we conclude that the common factors responsible for patients with craniofacial syndromes that have associated hand anomalies are the common time course of development of these two structures and certain mutations of genes controlling limb and craniofacial development. This article attempts to elucidate the sequence and crucial factors responsible for proper limb growth, as we understand it today. The most common craniofacial syndromes that include craniosynostosis and upper extremity anomalies are presented. These are Apert's, Saethre-Chotzen, Pfeiffer's, and Carpenter's syndromes. As we discuss each of these syndromes, basic principles regarding the surgical correction of the associated hand anomalies are described. We hope that this overview serves to give the pediatrician and the craniofacial specialist general guidelines for what to look for and expect in the hands and upper extremities of children under their care.

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