Syndromic craniosynostoses consist of a group of synostotic malformations occurring in conjunction with a constellation of facial, skeletal or other organ abnormalities. These craniofacial dysostoses are familial disorders and may present with single or multiple fused cranial vault sutures. Each syndrome may display extreme variability in clinical presentation in terms of its severity and outcome. This is due to complex interactions between genetic factors, cellular events and local forces affecting normal growth and development [1-3].
The common features in syndromic cranio-synostoses are premature coronal suture closure and abnormal cranial base morphology. This results in a characteristic brachycephaly and mid-face retrusion. There is controversy, however, over which factor (closed cranial vault suture or cranial base suture) is the initiating process resulting in the characteristic clinical features.
The classification systems for syndromic craniosynostoses are based upon either genetic and etiologic factors or clinical features. Cohen's system categorizes according to gene malformations, chromosomal defects or teratogenic-induced mutations . Mutations in FGFR genes have been demonstrated in several syndromes. These are a family of heparin-binding polypeptides that stimulate mitogenesis, induce differentiation in cells and exhibit angiogenic activity. Presently, specific mutations in FGFR2 have been associated with Apert, Crouzon and Pfeiffer syndromes. Pfeiffer syndrome has also been associated with a mutation in FGFR1 . Other classification systems, on the other hand, categorize by morphologic characteristics. These may be more useful clinically by facilitating surgical planning and decision making.
The various syndromic craniosynostoses often undergo similar reconstructive procedures to improve craniofacial form, proportionality, balance and symmetry. Each patient, however, should be approached with an individualized reconstructive strategy, in order to address the craniofacial dysostosis as well as the particular needs of the patient. Quantitative analysis with CT scans, surface anthropometry or cephalometry can be helpful in treatment planning. One should understand that the reconstruction may in fact correct the presenting deformity, but does not address
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