Saethre-Chotzen was first described in 1931 as a syndrome displaying coronal or lambdoidal craniosynostosis and characteristic features, including a low-set frontal hairline, upper-eyelid ptosis, facial asymmetry, deviated nasal septum and partial soft tissue syndactyly of the hands [13,19]. Inheritance is autosomal-dominant, with a high degree of penetrance and variable expressivity [11,20].
Craniofacial features include a brachycephaly or an anterior plagiocephaly due to bilateral or unilateral coronal suture involvement, respectively. Craniosynostosis is, however, not obligatory to the syndrome. Other cranial features that may be present include frontal bossing, parietal bossing, a flattened occiput, enlargement of the sella turcica and large and late-closing fontanelles. Maxillary hypoplasia and a flattened nasofrontal angle, with a beaked, deviated nose, are also common (Fig. 26.4). Oral findings can include a cleft palate, supernumerary teeth and enamel hypoplasia. Orbital findings may include ptosis of the eyelids, strabismus, blepharophimosis, hypertelorism, epi-canthal folds, down-slanting palpebral fissures and sparse eyebrows medially.
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