John Wiley & Sons, Ltd.

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

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Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into nonsyndromic or syndromic and by which sutures are affected. It affects 1 in 2,000‐2,500 children [Boulet et al., 2008]. Several craniosynostosis syndromes are associated with malformations of the digits, including craniosynostosis Philadelphia type (CP), a rare form of syndromic craniosynostosis with sagital craniosynostosis and syndactyly of the fingers and toes, with a relatively normal facial appearance [Robin et al., 1996]. Integr Environ Assess Manag © 2014 SETAC

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