Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome
© Al Kaissi et al; licensee BioMed Central Ltd. 2006
Received: 06 July 2006
Accepted: 16 October 2006
Published: 16 October 2006
We report a 15-year-old girl who presented with spinal malsegmentation, associated with other skeletal anomalies. The spinal malsegmentation was subsequently discovered to be part of the spondylocarpotarsal synostosis syndrome. In addition, a distinctive craniocervical malformation was identified, which included atlanto-axial rotatory fixation. The clinical and the radiographic findings are described, and we emphasise the importance of computerised tomography to characterize the craniocervical malformation complex. To the best of our knowledge, this is the first clinical report of a child with spondylocarpotarsal synostosis associated with atlanto-axial rotatory fixation.
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 . 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 history, i.e. history of three pregnancies with no history of spontaneous abortion, it has specific significance in genetically determined disorders), married to a 33-year-old first-degree relative. She had no history of serious illness, and her developmental history was almost within the normal limits, apart from a delay in walking, which commenced at the age of 2 years.
The child underwent a series of investigations, which included, a urine screen for metabolic disorders, a complete blood count, chromosomal analysis, basic hematological tests, plasma and urinary aminoacids assays. The results of these tests were normal. The type of scoliosis in our patient is malignantly progressive early in life and steadily during growth (poor prognosis). It was therefore treated through stabilisation of the spine. This was done by a posterior in situ fusion. The fused area incorporated the entire bar and extended one mobile level above and below the bar. Clinical and radiological follow up was mandatory to further assessing the condition. On the other hand, the suggested plan for the treatment of AARF is either a transoral decompression followed by a posterior fixation or the same procedure without posterior fixation
B) The radiographic examination:
Renal and pelvic ultrasounds showed normal genito-urinary system, and her ovaries, tubes, uterus were normal.
* The Wachenheim clivus line (a method to evaluate and assess craniocervical junction abnormality/injury), a line drawn along the posterior aspect of the clivus toward the odontoid process. An abnormality is suspected when this line does not intersect and or/not tangential to the odontoid process. .
** Chamberlain's line joins the hard palate to the posterior lip of the foramen magnum. Basilar impression is defined as being present when the tip of the dens projects more than 5 mm above Chamberlain's line .
Atlanto-axial subluxation is a rotational disorder of the atlanto-axial joint, that results in either limited rotation of the neck, or, in rare cases, fixation. The anterior facet of C1 becomes locked on the facet of C2, causing impaired rotation at this joint. It can occur with or without C1-C2 dislocation [6, 7].
Hertzka et al., , described atlanto-axial rotatory dislocation in a series of three patients with Marfan syndrome. Two of his patients developed acute torticollis postoperatively, following pectus excavatum repair. The diagnosis was made in the third patient after she presented to the emergency room with a weeklong history of unresolved neck pain, following minor trauma. Hobbs et al.,  described the diagnostic criteria in Marfan syndrome.
The cervical spine differs from the thoracic or lumbar region in both anatomy and functional respects. In particular the upper cervical spine has its own unique anatomy, including several ligaments designed to permit axial rotation of the atlas and head. Therefore the pathogenesis of cervicothoracic scoliosis should be carefully evaluated.
2) We wish to stress on the significant role of CT scan as a diagnostic tool in the interpretation of different bone malformation complexes.
To our knowledge there have been no reports describing such changes in association with (SSS).
Spondylocarpotarsal synostosis syndrome
Atlanto-axial rotatory fixation
- (Gravida 3 abortus 0):
mother had 3 children and no history of spontaneous abortions.
1) We wish to thank Dr. Michael Baraitser (Institute of Child Health-Clinical and Molecular Genetics-University College London) for his help in reviewing, editing and verifying this paper.
2) We thank Dr. Myriam Chaabounni (Charles Nicolle Hospital – department of Genetics for her technical help).
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