Apert Syndrome

Apert syndrome was first described by a French neurologist in 1906. It is also known as acro-cephalosyndactyly, referring to its characteristic features of craniosynostosis, mid-facial hypoplasia and symmetric compound complex syndactylism of the hands and feet (Fig. 26.2). The majority of cases occur sporadically, as fresh mutations. Increased paternal age has been associated with sporadic cases [8]. There is also an autosomal-dominant inheritance pattern, with complete penetrance. The incidence of Apert syndrome is about 1 per 100,000 births [9]. This does not account for the high mortality rate in the neonatal period, which equates to an incidence in the general population of 1 per 2 million [10].

The craniofacial features of Apert syndrome include bilateral coronal suture synostosis at birth, resulting in turribrachycephaly, with a high, flat forehead and transverse frontal skin furrow above the supraorbital ridges. There is also a wide midline calvarial defect in the area of the metopic and sagittal suture, present until the third year of life. The cranial base is malformed and asymmetric, with a short clivus and

Fig. 26.2. a Apert syndrome, with hypertelorism, exorbitism, strabismus, turribrachycephaly and maxillary hypoplasia. b Apert syndrome, with severe syndactyly
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