Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy

Kauffmann, E.; Roman, Horace; Barau, G.; Dumas, H.; Laffitte, A.; Fourmaintraux, A; Bintner, M.; Randrianaivo, Hanitra

doi:10.1002/pd.549

Cited by 32 publications

(23 citation statements)

References 13 publications

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“…Those reports have described the usefulness of prenatal sonographic diagnosis in families known to be at risk as well as in those with no positive family history, as our case illustrates. Up to now, just 3 cases in patients with low risk for this condition have been reported [12][13][14], although a definite diagnosis prior to delivery was only done in the latest case reported [14], whilst a skeletal malformation was suspected in the other 2. The former one was initially evaluated because of a low maternal serum ·-fetoprotein determination, thus, at 18 weeks' gestation underwent an amniocentesis for chromosomal analysis.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, in the case reported by Kauffmann et al [14], a transvaginal ultrasound was performed at 13 weeks' gestation. A shortened spine, vertebral disorganization, increased fetal nuchal translucency thickness and a spina bifida associated with renal calyces dilatation was found.…”

Section: Discussionmentioning

confidence: 99%

“…Prenatal diagnosis of this condition has been scarcely reported in patients with a previously affected child [6][7][8][9][10][11]. To the best of our knowledge, there are only three studies reporting a JLS prenatal diagnosis in patients not known to be at risk for the condition [12][13][14], although just only one made a precise diagnosis in first trimester [14]. We report a case in which the ultrasound features at 20 weeks of gestation suggested a precise diagnosis of JLS, in a couple with no previously affected children.…”

Section: Introductionmentioning

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%

Section: Introductionmentioning

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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“…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

“…Para establecer el diagnóstico con mayor certeza, la tomografía de alta resolución de la columna con reconstrucción tridimensional en el periodo postnatal, puede ser de gran ayuda (13).…”

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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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Spondylothoracic dysplasia: Prenatal diagnosis and the problems of nosologic overlap

Phadke

Patil

Kumari

et al. 2007

American J of Med Genetics Pt A

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Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy

Cited by 32 publications

References 13 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

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

Spondylothoracic dysplasia: Prenatal diagnosis and the problems of nosologic overlap

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