Three infants of diabetic mothers with malformations of left-right asymmetry???further evidence for the aetiological role of diabetes in this malformation spectrum

Slavotinek, Anne; Hellen, e; Gould, S; Sb, Coghill; Sm, Huson; Ja, Hurst

doi:10.1097/00019605-199607000-00008

Cited by 30 publications

(19 citation statements)

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“…It was associated with polysplenia in 2 patients and asplenia in another; 3 of the 5 children with congenital heart disease and caudal dysplasia had atrioventricular septal defect. Asplenia, polysplenia, and extrahepatic biliary atresia seem to be more common in infants of diabetic mothers [27,28]. None of the children with sirenomelia had evidence of congenital heart disease at autopsy.…”

Section: Discussionmentioning

confidence: 88%

Caudal Dysplasia Syndrome and Sirenomelia: Are They Part of a Spectrum?

Bruce

Romaguera

Rodríguez

et al. 2009

Fetal and Pediatric Pathology

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Caudal dysplasia syndrome (CDS) is associated with hypoplastic lower extremities, caudal vertebrae, sacrum, neural tube, and urogenital organs. Sirenomelia is characterized by a single lower extremity, absent sacrum, urogenital anomalies, and imperforate anus. There is controversy in the medical literature about whether sirenomelia and CDS are part of the spectrum of the same malformation. Patients with CDS and sirenomelia were identified from our pathology files from 1991 to 2006. Maternal history, pathologic examination, and radiographs were collected and tabulated. We found 9 cases with CDS and 6 with sirenomelia. Fully 7 of 9 patients with CDS (77.7%) versus none of sirenomelic babies were infants of diabetic mothers. Congenital heart disease was present in 5 patients with CDS (55.5%) and none of the infants with sirenomelia. Of 9 children with CDS 2 (22.2%) had bilateral renal agenesis versus 66% of sirenomelics. Single umbilical artery was found in 33% of cases with CDS and 100% of children with sirenomelia. External genitalia were ambiguous in 2 of 9 patients (22.2%) with CDS and in all patients with sirenomelia. Imperforate anus was found in 10 cases (66.6%) divided as 4 of 9 babies with CDS (44.4%) and all patients with sirenomelia. Three patients with CDS had concomitant maternal diabetes mellitus and chronic hypertension. These babies also had cleft lip and palate. Congenital heart disease was found in 55.5% of cases with CDS and none of the children with sirenomelia. We conclude that although CDS and sirenomelia share many similar features, they are two different entities.

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Section: Discussionmentioning

confidence: 88%

Caudal Dysplasia Syndrome and Sirenomelia: Are They Part of a Spectrum?

Bruce

Romaguera

Rodríguez

et al. 2009

Fetal and Pediatric Pathology

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“…Laterality disorders (fourth week) are statistically associated with maternal diabetes [relative risk, 56.9; Becerra et al, 1990]. Ear defects are also part of the ''embryological puzzle'' [Kučera, 1971;Johnson and Fineman, 1982;Slavotinek et al, 1996].…”

Section: Discussionmentioning

confidence: 99%

Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: Review of Goldenhar complex and malformations of left-right asymmetry

et al. 1998

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We observed a girl with an interrupted, left inferior vena cava with hemiazygous continuation, bilateral superior venae cavae, heart defects, and sacral agenesis. She had macrostomia and bilateral ear tags and pits, as in oculoauriculovertebral defect. Maternal diabetes was present. The combination, which we call OAV-heterotaxia complex, supports the view that some cases of oculoauriculovertebral defect may be part of a midline field defect of blastogenesis.

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“…These defects may result from heritable genetic diseases such as Kartagener syndrome, or prenatal exposure to teratogens [6]. Maternal diseases such as diabetes can also trigger laterality defects [7,8]. …”

Section: Left-right Asymmetry In Development and Diseasementioning

confidence: 99%

Micropatterning of cells reveals chiral morphogenesis

et al. 2013

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Invariant left-right (LR) patterning or chirality is critical for embryonic development. The loss or reversal of LR asymmetry is often associated with malformations and disease. Although several theories have been proposed, the exact mechanism of the initiation of the LR symmetry has not yet been fully elucidated. Recently, chirality has been detected within single cells as well as multicellular structures using several in vitro approaches. These studies demonstrated the universality of cell chirality, its dependence on cell phenotype, and the role of physical boundaries. In this review, we discuss the theories for developmental LR asymmetry, compare various in vitro cell chirality model systems, and highlight possible roles of cell chirality in stem cell differentiation. We emphasize that the in vitro cell chirality systems have great promise for helping unveil the nature of chiral morphogenesis in development.

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Three infants of diabetic mothers with malformations of left-right asymmetry???further evidence for the aetiological role of diabetes in this malformation spectrum

Cited by 30 publications

References 0 publications

Caudal Dysplasia Syndrome and Sirenomelia: Are They Part of a Spectrum?

Caudal Dysplasia Syndrome and Sirenomelia: Are They Part of a Spectrum?

Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: Review of Goldenhar complex and malformations of left-right asymmetry

Micropatterning of cells reveals chiral morphogenesis

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