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

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