Neural Defects in Jarcho-Levin Syndrome

Reyes, Marc G.; Morales, Augusto; Harris, Valerie; Barreta, Telly; Goldbarg, Hilda

doi:10.1177/088307388900400109

Cited by 28 publications

(25 citation statements)

References 6 publications

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“…However, we believe this NTD-associated group should be classified separately from the SCD group, because the primary developmental pathology presumably lies in the processes determining neural tube closure as distinct from somitogenesis (Martínez-Frías, 1996). Similarly, an association between spina bifida occulta, and/or diastematomyelia, and AVS has been reported (Poor et al, 1983;Aymé and Preus, 1986;Herold et al, 1988;Reyes et al, 1989), strongly suggesting a causal link or sequence, although the mechanisms remain to be elucidated.…”

Section: Non-mendelian Forms Of Avsmentioning

confidence: 96%

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: 96%

Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

144

120

View full text Add to dashboard Cite

show abstract

“…Poor et al [9]described a case of Jarcho-Levin syndrome associated with cerebral polygyria. Reyes et al [10]reported a case of Jarcho-Levin syndrome associated with diastematomyelia. These authors claim that neurological abnormalities should be considered a component of Jarcho-Levin syndrome [9, 10].…”

Section: Discussionmentioning

confidence: 99%

“…Reyes et al [10]reported a case of Jarcho-Levin syndrome associated with diastematomyelia. These authors claim that neurological abnormalities should be considered a component of Jarcho-Levin syndrome [9, 10]. Giacoia and Say [1]reported a patient with Jarcho-Levin syndrome who also had spina bifida, diastematomyelia and hydrocephalus.…”

Section: Discussionmentioning

confidence: 99%

“…Short neck, short trunk, as well as asymmetry of the thorax and abdomen bring these patients to medical attention [1]. Spina bifida occulta appears to be a common finding in reported SCD cases [9, 10, 12, 13]. …”

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%

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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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Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature

et al. 1996

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To further delineate and classify those forms of short trunk dwarfism characterized by multiple vertebral segmentation defects, we analyzed 26 new patients and reviewed 115 described in the literature. Three distinct entities were recognized based on radio‐graphic and clinical findings. Jarcho‐Levin syndrome is the lethal autosomal recessive form, characterized by a symmetric crablike chest. Spondylocostal dysostosis is the benign autosomal dominant condition. Spondylothoracic dysostosis shows considerable clinical and radiographic overlap with spondylocostal dysostosis. Malformations observed in association with multiple vertebral segmentation defects are more common in the sporadic patients. Analysis of the 26 new individuals revealed that the body segment in which these nonvertebral malformations occur corresponds to the site of the vertebral segmentation defects. © 1996 Wiley‐Liss, Inc.

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Neural Defects in Jarcho-Levin Syndrome

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

Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature

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