Complex Spinal Dysraphism with Multiple Anomalies

The recent occurrence of three similar cases in the same ethnic group from Niger, three from consanguineous parents, suggests that genetic factors are likely to contribute significantly to the genesis of this syndrome, consistent with a recent report that mutation of the bovine NHLRC2 gene resulting in a V311A substitution at a highly conserved locus in the NHLRC2 protein is, when homozygous, causally associated with several forms of polymelia including notomelia, with heteropagus conjoined twinning and with other NTD-related embryonic malformations. Detailed genome-wide studies of children with dysraphic appendages are indicated.

show abstract

Notomelia and related neural tube defects in a baby born in Niger: case report and literature review

Kelani

Moumouni

Issa

et al. 2017

Childs Nerv Syst

View full text Add to dashboard Cite

show abstract

Erratum to: Notomelia and related neural tube defects in a baby born in Niger: case report and literature review

et al. 2017

View full text Add to dashboard Cite

In the original publication of this article, we wrote "Although the allele prevalence of this V311A NHLRC2 mutation in the registered Angus cattle population was only 16% at the time, eleven of 13 consecutive cases with NTD related lesions were homozygous for the NHLRC2 mutation, demonstrating a causal association (Denholm et al., 2015)."In fact, Denholm et al. (2015) stated that the allele prevalence in the registered Angus cattle population in Australia in which the eleven consecutive NTD cases were observed was 7% at the time. (Correlation between the detected NHLRC2 mutation and the observed NTD related phenotypes is higher at the lower (corrected) allele prevalence value.)The online version of the original article can be found at http://dx

show abstract

Rachipagus parasitic twins: A case series and review of literature

Zewdie

Negash

Bizuneh

et al. 2021

Interdisciplinary Neurosurgery

View full text Add to dashboard Cite

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Complex Spinal Dysraphism with Multiple Anomalies

Cited by 3 publications

References 8 publications

Notomelia and related neural tube defects in a baby born in Niger: case report and literature review

Notomelia and related neural tube defects in a baby born in Niger: case report and literature review

Erratum to: Notomelia and related neural tube defects in a baby born in Niger: case report and literature review

Rachipagus parasitic twins: A case series and review of literature

Contact Info

Product

Resources

About