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

Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature,10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3

Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature   (Citations: 43)
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Journal: American Journal of Medical Genetics - AMER J MED GENET , vol. 61, no. 4, pp. 310-319, 1996
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    • ...By contrast, reports of dominant inheritance are relatively rare, and no causative gene mutations have been identified (Gucev et al. 2010; Mortier et al. 1996)...

    Duncan B. Sparrowet al. The mouse notches up another success: understanding the causes of huma...

    • ...Spondylothoracic dysostosis (STD), spondylocostal dysostosis (SCD) and Jarcho–Levin syndrome (JLS) are considered to be diVerent entities with diVerent inheritance and survival patterns, although they may overlap [2, 5, 6]. However, lethality due to vertebral segmentation anomalies is probably overestimated as some patients choose to terminate pregnancy upon prenatal diagnosis, where legally available...
    • ...Since 1978 various classiWcations have been published: on one hand, Solomon [14], who pointed out the prevalence of JLS in the Puerto Rican ethnicity, considered STD and SCD to be subtypes of JLS, on the other hand Mortier [6] studied 141 patients and concluded that SCD, STD and JLS are three diVerent entities that may overlap, thus, the eponym JLS has been used as synonym to both or at least to the most severe lethal autosomal recessive ...

    Margarita Alvarez de la Rosaet al. Genetic counseling in a case of congenital hemivertebrae

    • ...In our case, the prenatal diagnosis of shortened, disorganized spine and spina bifida was facilitated by using transvaginal sonography. It was the first case in which it was diagnosed and terminated during the first trimester of the pregnancy in a family without preceding medical history of Jarcho-Levin syndrome.To our knowledge, there have been 8 cases regarding prenatal diagnosis of Jarcho-Levin syndrome during the first trimester of pregnancy. Four fetuses presented with increased nuchal translucency. As in the present case, all cases showed a normal karyotype. Mortier et al. [...

    Cem Daneet al. Prenatal Diagnosis of Jarcho-Levin Syndrome in the First Trimester

    • ...JLS is proposed to divide into three clinical presentations: Jarcho-Levin for the usually lethal condition, spondylothoracic dysplasia (STD) for the less severe phenotype, and spondylocostal dysplasia (SCD) with intrinsic rib anomalies, without severe thoracic impairment [...

    Banu Daneet al. Jarcho-Levin Syndrome Presenting as Neural Tube Defect: Report of Four...

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