Polytopic anomalies with agenesis of the lower vertebral column

Bohring, Axel; Lewin, Susan O.; Reynolds, James F.; Voigtländer, Theda; Rittinger, Olaf; Carey, John C.; Köpernik, Michael; Smith, Rosemarie; Zackai, Elaine H.; Leonard, Norma; Gritter, Hilda L.; Bamforth, J.; Okun, Nannette; McLeod, David; Super, Maurice; Powell, Peter J.; Mundlos, Stefan; Hennekam, Raoul C. M.; Langen, Irene M. van; Viskochil, David; Wiedemann, H. R.; Opitz, John M.

doi:10.1002/(sici)1096-8628(19991119)87:2<99::aid-ajmg1>3.0.co;2-q

Cited by 59 publications

(17 citation statements)

References 85 publications

(65 reference statements)

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“…Exogenous retinoic acid alters homeobox (Hox) codes, resulting in homeotic transformations. Appropriately timed retinoic acid exposure may result in segmentation defects such as fusion or absence of vertebrae (Bohring et al, 1999;Padmanabhan et al, 1999). During normal embryogenesis, midline structures generate retinoic acid signals that sequentially activate Hox genes along the anteriorposterior axis (Padmanabhan et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

Urorectal septum malformation sequence: Insights into pathogenesis

Mauch

Albertine

2002

Anat. Rec.

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We characterize the urorectal septum malformation sequence (URSMS) in discordant fetal lambs and relate it to the human syndromes with which URSMS is associated. We found abnormal external genitalia, imperforate anus, and fistulous connections between the rectum, bladder, and vagina. Discordance among the dizygous twins eliminated teratogens as a likely etiologic factor. We summarize the relevant literature and propose a molecular model for the pathogenesis of the URSMS, in which alterations in sonic hedgehog and homeobox genes lead to caudal mesodermal deficiency during blastogenesis. Anat Rec 268: 405-410, 2002.

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Section: Discussionmentioning

confidence: 99%

Urorectal septum malformation sequence: Insights into pathogenesis

Mauch

Albertine

2002

Anat. Rec.

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“…The superiority of lumbosacral magnetic resonance imaging for diagnosis, both antenatal and postnatal, and for classification, is generally accepted today. It also readily detects various associated anomalies [34][35][36][37][38][39][40][41][42][43][44][45][46].…”

Section: Crs and Associated Anomalies Of Other Systemsmentioning

confidence: 99%

Etiology of Caudal Regression Syndrome

Semba¹,

Yamamura²

2013

Human Genet Embryol

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Caudal regression syndrome (CRS) is a rare congenital disorder in which lumbosacral anomalies are combined with anorectal and urogenital malformations. However, the molecular mechanisms of human CRS are not yet known. Trauma, nutritional problems, toxic agents, and genetics are suggested in the etiology of CRS. To the best of our knowledge, linkage studies of families affected exclusively by CRS or total sacral agenesis have not been conducted. In spite of the small number of familial cases reported, some specific genes have been shown to cause defined phenotypes. Environmental factors also may act as an enhancer in the etiology for CRS. There are several mutant mice that are considered as models for CRS, showing characteristic vertebral, anorectal, and urogenital abnormalities. Understanding the mechanisms for CRS development gives us valuable information to understand better what mutations may cause or contribute to CRS in humans. This review highlights the current evidence that pinpoints the link to the etiology of CRS.

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“…Classically, the axial skeletal malformation in maternal diabetes syndrome is caudal regression to a varying degree, that is, absent sacrum or agenesis of the lower vertebral column (Bohring et al, 1999), but there are patients with hemivertebrae (Novak and Robinson, 1994) and various forms of axial skeletal defect (Fig. 6) following poorly controlled diabetes in pregnancy.…”

Section: Non-mendelian Forms Of Avsmentioning

confidence: 99%

Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

145

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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Polytopic anomalies with agenesis of the lower vertebral column

Cited by 59 publications

References 85 publications

Urorectal septum malformation sequence: Insights into pathogenesis

Urorectal septum malformation sequence: Insights into pathogenesis

Etiology of Caudal Regression Syndrome

Abnormal vertebral segmentation and the notch signaling pathway in man

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