Spondylocostal Dysostosis with Perinatal Death and Meningomyelocele

Rodríguez, Maria M.; Mejias, A.; Haun, R. L.; Mata, Maria B.; Bruce, J.

doi:10.3109/15513819409022025

Cited by 12 publications

(8 citation statements)

References 10 publications

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“…It has been reported that neural tube defects such as spina bifida, meningocele, meningmyelocele, lipomyelomeningocele, hemimyelomeningocele, and diastematomyelia are associated with Jarcho–Levin syndrome. 17 –20 Rodriguez et al 21 reported anal atresia and meningmyelocele in a case with Jarcho–Levin syndrome. McLennan 22 has determined that the prevalence of spina bifida in cases with anomalies of the vertebral column and the ribs is 50%.…”

Section: Discussionmentioning

confidence: 99%

A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho–Levin Syndrome

et al. 2015

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Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho-Levin syndrome, Arnold-Chiari malformation, and meningmyelocele. All cases of Jarcho-Levin syndrome had Arnold-Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6, lumbal meningmyelocele in 3, thoracal meningmyelocele in 3, and holoprosencephaly in 1 of the cases. With this article, the authors underline the neurologic abnormalities accompanying Jarcho-Levin syndrome and that each of these abnormalities is a component of Jarcho-Levin syndrome.

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Section: Discussionmentioning

confidence: 99%

A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho–Levin Syndrome

et al. 2015

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“…Mutations in MESP2-associated spondylocostal dysplasia type 2 (SCD2) showed a severe generalized vertebral disorder, with some patients having ribs that radiate out in what has been described as the "crab chest" and some have referred to as " JLS". [13] Rodriguez et al [14] reported the association Etus et al [8] described the association of spondylocostal dysplasia and type I split cord malformation None of the above-mentioned reports described the association of SCD and hemimyelomeningocele with subsequent maldevelopment of spondylopelvic malformation.…”

Section: Discussionmentioning

confidence: 94%

Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele

Kaissi¹,

Stuecker²,

Rudolf³

et al. 2014

Afr J Paediatr Surg

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Congenital malformation complex of the spine and the spinal cord can be a syndromic entity rather than a symptom complex. The spinal cord lesion is usually bilaterally symmetrical, but, there are occasional cases with one or more hemivertebrae, often associated with a central bony spur splitting the cord (diastematomyelia), in which one leg is virtually normal while the other is severely paralysed. Hemimyelomeningocele over the lumbar area may be associated with extensive spine malsegmentation compatible with the diagnosis of spondylocostal dysplasia syndrome. In this report, we present a 3-year-old girl who underwent neurological evaluation and spinal imaging studies for extensive spine malsegmentation compatible with spondylocostal dysostosis syndrome associated with hemimyelomeningocele. She had a series of corrective orthopaedic interventions to reconstruct her pelvic girdle and spine deformities, with a satisfactory outcome.

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“…3 Spondylocostal dysostosis encompasses a spectrum of vertebral abnormalities ranging from spina bifida occulta to large myelomeningocoele and from mild to severe thoracic deformities that produce pulmonary hypoplasia and respiratory insufficiency. 4 Jarcho-Levin syndrome, that involves the entire spine, is a severe form of spondylocostal dysostosis. 5 A symmetric crab-like chest characterizes this syndrome.…”

Section: Discussionmentioning

confidence: 99%