Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome

There have been more than 20 clinical reports of the Spondylocarpotarsal synostosis syndrome, (SSS), a condition in which patients primarily present with scoliosis/kyphoscoliosis. It is characterised, by failure of normal spinal segmentation, resulting in block vertebrae and fusion of posterior elements. Carpal and/or tarsal coalition, pes planus, dental enamel hypoplasia, decreased range of motion or dislocation of the elbow, renal anomalies, and hearing loss, are additional features. Our patient presented with scoliosis, and later, with persistent torticollis. Radiographic evaluation of the cervicocranium, which is traditionally based on the anteroposterior (open-mouth) and lateral spine radiography, was not contributory. CT scans revealed atlanto-axial rotatory fixation.Atlanto-axial rotary fixation, (AARF) has been reported in connection with Marfan syndrome. Radiographic analysis of patients with Marfan syndrome has shown that, atlantoaxial rotatory subluxation can also occur. An increased atlanto-axial translation, larger odontoid height, and basilar impression are more prevalent in the Marfan-population compared to age-matched controls [1]. Some clinical reports describe the association of Spondylocarpotarsal synostosis syndrome and cervical malformations, [2,3]. The cause of SSS is unknown, although autosomal recessive inheritance has been suggested. We herein reported a patient with SSS, with the additional atlanto-axial rotatory fixation. To the best of our knowledge neither AARF nor the role of computerized tomography to investigate the craniocervical junction, have been reported in patients with SSS.A) The proband presented with thoracic scoliosis (Cobb angle of 85 degree) and torticollis. She was the product of an uneventful gestation, with a birth weight of 2900 g, a length of 48 cm, and a head circumference occipital-frontal circumference (OFC) of 31 cm. Her mother was a 29-year-old gravida 3, abortus 0 (term to signify the maternal obstetrical histor