Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester

Lam, Yung Hang; Eik‐Nes, S. H.; Tang, Mary Hoi Yin; Lee, C. P.; Nicholls, John M.

doi:10.1046/j.1469-0705.1999.13030213.x

Cited by 21 publications

(16 citation statements)

References 5 publications

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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%

“…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%

“…At 14 weeks' gestation an ultrasound examination identified similar findings adding vertebral malformations (thoracic scoliosis, deficient cervical vertebral bodies and absence of the upper six ribs of the left chest). In view of the multiple fetal malformations, pregnancy was terminated [13].…”

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: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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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“…hernias also occur in patients with spondylocostal dysostosis (SCD), a syndrome marked by aberrant mesodermal patterning, caused by defects in the Notch signaling pathway (101)(102)(103)(104). Notch signaling mediates short range interactions involved in cell fate decision and boundary formation.…”

Section: Components Of the Notch Signaling Pathway-diaphragmaticmentioning

confidence: 99%

Molecular genetics of congenital diaphragmatic defects

et al. 2007

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Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH. These include genes for transcription factors, molecules involved in cell migration, and extracellular matrix components. The expression patterns of these genes in the developing embryo suggest that mesenchymal cell function is compromised in the diaphragm and other affected organs in patients with CDH. We discuss potential mechanisms underlying the seemingly random combination of diaphragmatic, pulmonary, cardiovascular, and gonadal defects in these patients.

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Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

Coman

Bacic

Boys

et al. 2008

American J of Med Genetics Pt A

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The spondylocostal dysostoses (SCD) are a clinically and genetically heterogeneous group of disorders characterized by defects of vertebral segmentation and rib abnormalities. We report on the diagnosis of two siblings with SCD. Diagnosis was first made in a female infant following a pregnancy that was complicated by early fetal hydrops and a nuchal translucency of 8.2 mm in the first trimester. The clinical picture was complicated by the co-existent diagnosis of confined placental mosaicism (CPM) for tetrasomy 9p. To our knowledge, this is the first report of CPM for tetrasomy 9p. Postnatally the diagnosis of SCD was made on the basis of radiographic findings comprising multiple anomalies of the cervical and thoracic vertebrae and multiple fused and dysplastic ribs. Radiographic investigation of other family members showed that the infant's 4-year-old sibling had fusion of four ribs on the right side, indicating a less severe form of SCD. Testing of the genes DLL3, MESP2, and LFNG did not identify a mutation, suggesting that the siblings may have a new molecular subtype of SCD.

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Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester

Cited by 21 publications

References 5 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

Molecular genetics of congenital diaphragmatic defects

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

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