Early sonographic diagnosis of Jarcho‐Levin syndrome: a prospective screening program in one family

Eliyahu, Shlomo; Weiner, Ehud; Lahav, Debbi; Shalev, Eliezer

doi:10.1046/j.1469-0705.1997.09050314.x

Cited by 49 publications

(22 citation statements)

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“…Since then, prenatal sonographic diagnosis of JLS has been reported in both the first [10,13] and second trimester [6,7,11,12]. The most characteristic sonographic features were abnormal alignment of the vertebral bodies and posteriorly fused ribs.…”

Section: Discussionmentioning

confidence: 99%

“…In those cases reported with a family history, an early suspicion as early as at 12 weeks' gestation has been reported [10], although the definitive diagnosis of the syndrome had to await later sonographic confirmation. Therefore, unless the abnormalities of the chest are grossly apparent, a definitive diagnosis may not be established before the 14-16 weeks of gestation, when the anatomy of the spine can be better identified by the use of transvaginal ultrasound scan [17][18][19][20].…”

Section: Discussionmentioning

confidence: 99%

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Ultrasonographic Diagnosis of Jarcho-Levin Syndrome at 20 Weeks’ Gestation in a Fetus without Previous Family History

Holgado¹,

Martínez²,

Gómez³

et al. 2005

Fetal Diagn Ther

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Jarcho-Levin syndrome (JLS; spondylothoracic dysplasia) is a congenital disease characterized by multiple vertebral and rib malformations, causing a short trunk dwarfism commonly leading to respiratory insufficiency and death during the first years of life. We describe a case diagnosed during the second trimester routine ultrasound scan for screening of fetal anomalies without a previous family history. The fetus had a severe disorganization of the spine and ribs, skeletal kyphosis, with several hemivertebrae and a small thorax. All of the findings at postmortem examination confirmed the ultrasound features and were consistent with the JLS. To the best of our knowledge there is only one case reported in the literature of a prenatal diagnosis of the syndrome in a family with low risk for the condition.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Ultrasonographic Diagnosis of Jarcho-Levin Syndrome at 20 Weeks’ Gestation in a Fetus without Previous Family History

Holgado¹,

Martínez²,

Gómez³

et al. 2005

Fetal Diagn Ther

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“…Use of the eponymous term JLS tends to be indiscriminate, and for that reason, we believe should be discontinued. For example, there are other case reports designated as JLS, which are neither very similar to those described by Jarcho and Levin nor consistent with STD (Poor et al, 1983;Karnes et al, 1991;Simpson et al, 1995;Aurora et al, 1996;Eliyahu et al, 1997;Rastogi et al, 2002). Once a gene for STD in the Puerto Rican families is identified, it will be possible to undertake genotype-phenotype studies that will further facilitate classification.…”

Section: Avs Phenotypes Following Mendelian Inheritancementioning

confidence: 98%

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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“…Síndrome de Jarcho-Levin en Antioquia columna vertebral corta e irregular, tronco corto, longitud de las costillas normal y abdomen protuberante (2,7,12,13). El cariotipo del líquido amniótico, generalmente, es normal (14).…”

Section: Discussionunclassified

“…La muerte ocurre en el periodo neonatal o en la infancia temprana por insuficiencia respiratoria, neumonía o enfermedad pulmonar restrictiva con hipertensión pulmonar grave (2)(3)(4)(5)12). …”

Section: Clasificaciónunclassified

Reporte de cuatro casos de pacientes con síndrome de Jarcho-Levin en el departamento de Antioquia, Colombia

Montoya

Morales

2009

biomedica

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El síndrome de Jarcho-Levin es una displasia esquelética con alteraciones en la morfogénesis vertebral y en la segmentación costal, que se manifiesta con hemivertebras, fusión vertebral o agenesia vertebral, y fusión costal. Esta entidad también se ha denominado displasia-disostosis espóndilo-costal o espóndilo-torácica. En este artículo se presentan cuatro casos evaluados en el Hospital Universitario San Vicente de Paúl, Medellín, Colombia. Tres tienen origen familiar en el suroeste del departamento de Antioquia y uno en Medellín, lo que podría estar relacionado con un alelo con acentuada frecuencia en esta población. En este artículo se describen las características clínicas y radiológicas, y las complicaciones más importantes, entre las cuales podemos citar la presencia de enfermedad pulmonar restrictiva, con necesidad permanente de oxígeno en todos los pacientes y, en uno, hipertensión portal de etiología por esclarecer, lo cual no se ha reportado como manifestación de este síndrome.Palabras clave: patrón de herencia, frecuencia de los genes, anomalías congénitas, columna vertebral, costillas, hipertensión portal. Four cases of Jarcho-Levin's syndrome in the province of Antioquia, ColombiaJarcho-Levin's syndrome is a skeletal dysplasia with changes in the morphogenesis and costal vertebrae segmentation. It is manifested by hemivertebrae, fused vertebral bodies, absent vertebrae or fused ribs. This entity has also been called spondylo-costal or spondylo-thoracic dysplasia-dysostosis. This paper presents four cases evaluated at the Hospital University San Vicente de Paúl, Medellín, Colombia. Three had family origins in southwestern Antioquia and one in Medellin, indicating the possibility of a predisposing genetic allele with elevated frequency in this population. The clinical and radiological manifestations were described, a well as the most notable complications, such as restrictive lung disease with permanent oxygen requirement (all 4 patients) and portal hypertension etiology (1 patient). The latter has not been reported previously as a manifestation of this syndrome. El síndrome de Jarcho-Levin fue descrito por primera vez en 1938 (1) y, hasta la fecha, sólo se han reportado cerca de 400 casos en la literatura mundial (2) y uno en Colombia (3). Este síndrome se manifiesta con tórax corto, debido a múltiples malformaciones vertebrales y costales que, en la mayoría de los casos, desencadenan insuficiencia respiratoria y muerte neonatal temprana (4). Es una enfermedad poco frecuente que se ha conocido con diferentes nombres a través de la historia, entre los cuales están disostosis-displasia espóndilo-torácica, espóndilo-costal o costo-vertebral (4).

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Early sonographic diagnosis of Jarcho‐Levin syndrome: a prospective screening program in one family

Cited by 49 publications

References 0 publications

Ultrasonographic Diagnosis of Jarcho-Levin Syndrome at 20 Weeks’ Gestation in a Fetus without Previous Family History

Ultrasonographic Diagnosis of Jarcho-Levin Syndrome at 20 Weeks’ Gestation in a Fetus without Previous Family History

Abnormal vertebral segmentation and the notch signaling pathway in man

Reporte de cuatro casos de pacientes con síndrome de Jarcho-Levin en el departamento de Antioquia, Colombia

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