Ischiopubic and odontoid synchondrosis in a boy with progressive pseudorheumatoid chondrodysplasia

<p>Abstract</p> <p>Purpose</p> <p>To present the case of a 14-year-old boy with clinical and radiographic features of pseudorheumatoid chondrodyspalsia with additional, potentially serious, cervical malformations.</p> <p>Methods</p> <p>Detailed clinical and radiological examinations were undertaken with emphasis on the usefulness of 3D-CT scanning.</p> <p>Results</p> <p>There was synchondrosis between the odontoid and the body of the axis and the cephalad part of the odontoid was detached. Bilateral ischiopubic ossification defects and ischiopubic and odontoid synchondroses were additional abnormalities. 3D-CT scan showed an orthotopic type of os odontoideum associated with an occult axial fracture.</p> <p>Conclusion</p> <p>Children who are younger than seven years of age are predisposed to develop odontoid fracture. The latter occur because of the presence of physiological odontoid synchondrosis, but fractures can result from trivial injuries as well as from high-energy trauma. The persistence of an infantile odontoid, with a large pre-adulthood head in children with skeletal dysplasias, is a major risk factor for sudden death or significant morbidity. Comprehensive orthopaedic management must follow early identification of these malformations.</p

Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome

Zespół zrostowy kręgosłupa, nadgarstka i śródstopia (rzadko rozpoznawany, nierzadko występujący)

Spondylocarpotarsal synostosis syndrome - a rarely recognised entity - is characterised by malsegmentation of the spine and carpal/tarsal fusions (1,2,5-9). The main reason for the rarity of its diagnosis is that radiographs of the hands and feet are not routinely performed in children with scoliosis and/or kyphoscoliosis, and fusion of the carpal/tarsal bones may not be evident in preschool children. We report four patients with spondylocarpotarsal synostosis syndrome; the diagnosis in three of these was not made until radiographs of the hands were performed. The amount of scoliosis was much less evident in two of these patients (sibs) than in the others

Massive spinal-ischial dysplasia and extensive spinal dyssygmentation in a Tunisian child with severe form of Cleido- cranial dysplasia

Abstract Kyphoscoliosis is a complication of some bone dysplasias, including Cleido-cranial dysplasia (CCD). We report on massive spinal dysplasia secondary to severe spinal dyssygmentation associated with marked defective ossification of the ischium, detected in a Tunisian female child with a severe form of Cleido-cranial dysplasia. Literature review on Cleido cranial dysplasia and associated spinal abnormalities showed no previous similar reports as encountered in our patient

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis

BACKGROUND: Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. CASE REPORT: We report a 12-year-old-female with progressive anterior vertebral fusion. This occurred at three vertebral levels. In the cervical spine there was progressive fusion of the lateral masses of the Axis with C3. Secondly, at the cervico-thoracic level, a severe, progressive, anterior thoracic vertebral fusion (C7-T5) and (T6-T7) resulted in the development of a thick anterior bony ridge and massive sclerosis and thirdly; progressive anterior fusion at L5-S1. Whereas at the level of the upper lumbar spines (L1) a split cord malformation was encountered. Situs inversus visceralis was an additional malformation. The role of the CT scan in detecting the details of the vertebral malformations was important. To our knowledge, neither this malformation complex and nor the role of the CT scan in evaluating these patients, have previously been described. CONCLUSION: The constellations of the skeletal abnormalities in our patient do not resemble any previously reported conditions with progressive anterior vertebral fusion. We also emphasise the important role of computerized tomography in the investigation of these patients in order to improve our understanding of the underlying pathology, and to comprehend the various stages of the progressive fusion process. 3D-CT scan was performed to improve assessment of the spinal changes and to further evaluate the catastrophic complications if fracture of the ankylosed vertebrae does occur. We believe that prompt management cannot be accomplished, unless the nature of these bony malformations is clarified

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

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

Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity

A 10-year-old boy was found to have an unusual presentation of the Sprengel anomaly, omovertebral bones, and segmentation defects of the vertebral column at the cervical, thoracic, and sacral level. In addition, he showed hypertelorism, downslanting palpebral fissures, ptosis, webbing, and hypoplasia of the thenar and hypothenar areas. He had moderate mental delay. In addition to the segmentation defects and omovertebral bones, radiological studies showed a small pelvis and 11 pairs of ribs. Some of the features were present in the mother, and minimal symptoms were present in the father. The parents were consanguineous. A paternal cousin had segmentation defects, omovertebral bones, and a Sprengel deformity as well, although with milder presentation than the proband. We were unable to find a similar combination of manifestations in literature. The familial occurrence is best compatible with autosomal dominant inheritance, showing wide variability of expression. It is possible that the more notable signs in the proband can be explained by homozygosity for the disorder. (c) 2005 Wiley-Liss, In