Saethre-Chotzen syndrome: Review of the literature and report of a case

Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome who se gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turriplagiocephaly with a cranial circumference of 5 2 cm, facial asymmetry, low hairline proptosis, antimongoloid slanting of p alpebral fissures, nasal deviation with high bridge, angled ears, scoliosis and torticollis, clinodactyly of the fourth and fifth toes, large halluxes , and neurosensorial hypoacusia. For correction of the deformity, a cranioo rbital remodelling was performed. The craniofacial approach with remodellin g of the frontal bar and reduction of the turricephaly resulted in a satisf actory morphological and functional outcome, with complete three-dimensiona l reshaping and remodelling of the frontonasoorbital area.