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Two or more sutures

Variable

Bilateral coronal

Turribrachycephaly

Bilateral lambdoid

Brachycephaly

Saethre-Chotzen syndrome. Furthermore, mutations in FGFR 1 and 2 have been demonstrated in Apert, Crouzon, Pfeiffer and Jackson-Weiss syndromes [19].

In turn, an understanding of these mutations has provided impetus for delineating the molecular substrates and basis of suture and cranial development, and has directed our thinking pertaining to the pathogenesis of non-syndromic craniosynostosis. The pathogenesis and etiology are complex and heterogeneous and, in the majority of cases, the cause(s) remain obscure. Although craniosynostosis is mostly sporadic, likely resulting from de-novo autosomal-dominant mutations [20], familial cases are well documented. Continuing studies of molecular genetics may elucidate the genes involved in these non-syndromic cases.

FGFRs are expressed during development in the calvarial sutures and both FGFRs and FGFs are important in osteogenesis and differentiation. FGFs and FGFRs may maintain the integrity of suture formation and patency. The TWIST gene probably functions as a transcription factor and is implicated in the embryogenesis and development of the head and limbs [19]. The MSX2 gene is expressed during embryogenesis and has been specifically localized to the osteogenic front in developing cranial sutures [19]. An increasing body of evidence suggests the existence of a dynamic interaction between MSX2 and FGRF2 that may regulate suture and cranial development. More recently, TWIST has been postulated to interact with FGFR and MSX2 in a common signaling pathway involved in head mesenchyme formation at distinct steps [19]. Associated mutations in these genes may precede development of craniosynostosis. Other putative molecular mediators of suture morphogenesis, closure and craniosynostosis have been proposed, including TGF-p and bone morpho-genetic proteins (BMPs) [19]. Although considerable progress has been made in our understanding of the molecular basis of syndromic and non-syndromic craniosynostosis, further probing into these quintessential mechanisms is warranted.

Much attention has focused on the genetic basis of craniosynostosis. However, this certainly does not preclude the existence of environmental influences on the genesis of this disorder. For example, fetal head restraint has

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