literature(2,3). Recently, this syndrome has been divided into two major subtypes: spondylothoracic dysostosis and spondylocostal dysostosis(3,4). We describe two cases of the JarchoLevin syndrome, one of each subtype (spondylothoracic dysostosis and spondylocostal dysostosis). The cases illustrate the typical findings of the syndrome and highlight the differences between the two subtypes of th...

Materials and methods We retrospectively reviewed 16 paediatric patients affected by kyphotic spinal deformity (T3-T12 kyphosys > 60°) surgically treated with Growing Rod or VEPTR-like systems from 2006 to 2011. There were 8 males and 8 females, with a mean age of 7 years (range, 4 to 11). The aetiology was: idiopathic scoliosis (5 cases), kyphosis in Morquio disease (1) and in Pott disease (1)...

Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondyloc...

We report on a four-generation inbred family including 10 individuals affected with a form of craniotubular dysplasia (CTD). All affected patients were born to consanguineous healthy parents; this finding, together with the equal sex ratio among affected individuals and the occurrence of only normal individuals among their offspring, indicates that the disease in this family is an autosomal rec...

OBJECTIVE The aim of this study was to perform a detailed tomographic analysis of the skull base, craniocervical junction, and the entire spine in seven patients with spondylocostal dysostosis syndrome. METHOD Detailed scanning images have been organized in accordance with the most prominent clinical pathology. The reasons behind plagiocephaly, torticollis, short immobile neck, scoliosis and ...

Short stature resulting from spinal deformity in three generations of a family is reported. Multiple vertebral anomalies were found in the proband and are the probable underlying cause of the severe scoliosis seen in the adult members. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition, but it may well be the same gene that causes the dominant ...

Two siblings with spondylothoracic dysostosis, and two siblings and three unrelated children with spondylocostal dysostosis are described. Both conditions are inherited and characterised by malformed thoracic and lumbar vertebrae. Spondylothoracic dysostosis produces "crab-like" deformities of the ribs, and is usually fatal during early infancy due to respiratory failure. Spondylocostal dysosto...

Cervical dysraphism is rare, and the 3 recognized subtypes manifest as cystic, skin-covered masses. To our knowledge, no case of cervical lipomyelocele has been reported in the literature so far. We present a case of surgically and pathologically confirmed cervical lipomyelocele in a patient with spondylocostal dysostosis and multiple other congenital anomalies and a brief review of the literat...