A radiological study of vertebral and rib malformations in children with myelomeningocele

Naik, D. R.; Lendon, R. G.; Barson, A J

doi:10.1016/s0009-9260(78)80105-6

Cited by 28 publications

(18 citation statements)

References 6 publications

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“…A frequent association, which must be causally linked, is neural tube defect (NTD; Wynne-Davies, 1975;Eller and Morton, 1976;McLennan, 1976;Naik et al, 1978;Lendon et al, 1981;Kozlowski, 1984;Giacoia and Say, 1991;Martínez-Frías et al, 1994;. Sharma and Phadke, 1994).…”

Section: Non-mendelian Forms Of Avsmentioning

confidence: 99%

Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

144

120

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Abnormal vertebral segmentation (AVS) in man is a relatively common congenital malformation but cannot be subjected to the scientific analysis that is applied in animal models. Nevertheless, some spectacular advances in the cell biology and molecular genetics of somitogenesis in animal models have proved to be directly relevant to human disease. Some advances in our understanding have come through DNA linkage analysis in families demonstrating a clustering of AVS cases, as well as adopting a candidate gene approach. Only rarely do AVS phenotypes follow clear Mendelian inheritance, but three genes-DLL3, MESP2, and LNFG-have now been identified for spondylocostal dysostosis (SCD). SCD is characterized by extensive hemivertebrae, trunkal shortening, and abnormally aligned ribs with points of fusion. In familial cases clearly following a Mendelian pattern, autosomal recessive inheritance is more common than autosomal dominant and the genes identified are functional within the Notch signaling pathway. Other genes within the pathway cause diverse phenotypes such as Alagille syndrome (AGS) and CADASIL, conditions that may have their origin in defective vasculogenesis. Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing.

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Section: Non-mendelian Forms Of Avsmentioning

confidence: 99%

Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

144

120

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“…In 1976, McLennan [7]reported that vertebral anomalies were found concomitantly with abnormal ribs in about half the patients with spina bifida. In 1978, Naik et al [8]made a radiological necropsy study of vertebral and rib malformations in children with myelomeningocele. They demonstrated that 64 had various anomalies, including fused vertebral arches, fused vertebral bodies, absence of vertebral bodies and absent or fused ribs [8].…”

Section: Discussionmentioning

confidence: 99%

“…SCD is transmitted both in a severe recessive form and as a dominant defect [2]. The common association of rare segmental costovertebral malformations and neural tube defects (NTDs) suggests an etiological link [1, 4, 5, 6, 7, 8, 9, 10, 11]. The various associated clinical anomalies derived from three germ layers in NTDs are listed in table 1.…”

Section: Introductionmentioning

confidence: 99%

Segmental Costovertebral Malformations: Association with Neural Tube Defects

Duru

Ceylan²,

Güvenç³

1999

Pediatr Neurosurg

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Patients with spondylocostal dysostosis (SCD) have vertebral abnormalities and numerical or structural rib anomalies that produce thoracic asymmetry. Rib anomalies and dysmorphism are the typical features that differentiate this syndrome from spondylothoracic dysostosis (STD). Jarcho-Levin syndrome is a severe form with involvement of the whole vertebral column. Other associated findings such as congenital heart defects, abdominal wall malformations, genitourinary malformations and upper limb anomalies may be found; in addition, neural tube defects (NTDs) have been associated with this malformation. SCD is transmitted both in a recessive form and as a dominant defect. We report on 3 children with SCD; 2 also had NTDs. All of them were studied with X-rays and spinal magnetic resonance (MR), and over the same period they underwent multidisciplinary clinical functional evaluation. One of our cases with NTD also presented polythelia, which has not previously been described in patients with SCD. The common association of segmental costovertebral malformations with NTDs could be related to an early gastrulation genomic defect, or one after gastrulation, when there are two independent somitic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Also, the association of SCD with NTDs could be related to the interaction of different genes, resulting in this complex phenotype. Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD.

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“…Nos pacientes com mielomeningocele existem dois tipos de cifose: paralítica por insuficiência muscular e as congênitas 5 . A cifose nos portadores de mielomeningocele tem incidência que varia entre 1 6 a 46% 7 , e a forma congênita corresponde a 13,9% 8 . A cifose congênita é causada por uma falha de formação ou de segmentação de pelo menos uma vértebra, sendo mais frequente a falha de formação da porção anterior do corpo vertebral 9,10 .…”

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Uso da prótese vertical expansível de titânio para costela no tratamento da cifose congênita em portadores de mielomeningocele torácica

et al. 2009

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OBJETIVO: avaliar os resultados clínicos e radiográficos pós-operatórios da correção de cifose congênita em pacientes com mielomeningocele de nível torácico, utilizando a prótese vertical expansível de titânio para costela (VEPTR). MÉTODOS: estudo retrospectivo de 19 pacientes com mielomeningocele torácica e cifose congênita submetidos a tratamento com VEPTR, entre Outubro de 2005 e Outubro de 2008, com avaliação radiográfica e clínica pré e pós-operatória imediata. Foram avaliadas também a duração do procedimento cirúrgico, a necessidade de transfusão sanguínea e as complicações pós-operatórias. RESULTADOS: a média de idade dos pacientes foi de 70 meses ou cinco anos e dez meses (32 a 130 meses). A média de seguimento dos pacientes foi de 13,5 meses (2 a 26 meses). A duração média do procedimento foi de 117 minutos (variação de 70 a 195 minutos). Todas as crianças adquiriram equilíbrio de tronco, sendo que 13 delas não apresentavam isto no pré-operatório. A média da cifose pré-operatória foi de 115° (80° a 150°) e pós-operatória de 77° (50° a 104°), com porcentagem média de correção de 31,2% (1,1 a 61,5%). O desequilíbrio do tronco pré-operatório foi de 7,9 cm, em média (1,0 a 15,5 cm) e pós-operatório de 3,4 cm (0 a 8 cm). A correção média desse desequilíbrio foi de 50,4% (0 a 100%). Com relação ao peso, no pré-operatório a média foi de 15,4 kg (8 a 30 kg), e no pós-operatório de 20,6 kg (8,5 a 35 kg). O ganho médio de peso foi de 36,6% (9,8 a 100%). Dos 19 pacientes, cinco (26,3%) apresentaram complicações pós-operatórias. Nenhum paciente necessitou de transfusão sanguínea. CONCLUSÃO: a utilização do VEPTR nos pacientes portadores de mielomeningocele torácica com cifose congênita tem se mostrado uma alternativa eficaz e promissora de controle da deformidade em pacientes esqueleticamente imaturos.

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A radiological study of vertebral and rib malformations in children with myelomeningocele

Cited by 28 publications

References 6 publications

Abnormal vertebral segmentation and the notch signaling pathway in man

Abnormal vertebral segmentation and the notch signaling pathway in man

Segmental Costovertebral Malformations: Association with Neural Tube Defects

Uso da prótese vertical expansível de titânio para costela no tratamento da cifose congênita em portadores de mielomeningocele torácica

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