A case of cephalomelia discovered in a baby born in Niger

Kelani, AB; Moumouni, Hassane; Younsa, H.; Didier, Lassey James; Hima, A. M.; Guemou, A.; Issa, A. W.; Ibrahim, AI; Sanda, M. A.; Sani, R.; Sanoussi, S.; Catala, Martin

doi:10.1007/s00381-015-2831-2

Cited by 5 publications

(1 citation statement)

References 18 publications

(22 reference statements)

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“…This situation is reminiscent of the so‐called caudal appendages in which one can find a digit or a complete or partial limb (Krishna and Lal, ; Gamanagatti et al, ; Snelling et al, ). However, these extra‐limbs can be found elsewhere arising from the midline: thoracic (Sharma et al, ), cervical (Fulmer et al, ), or even occipital region (Kelani et al, ). We have not observed extra‐ribs outside the sacral area.…”

Section: Discussionmentioning

confidence: 99%

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma

Accogli

Pavanello

Accorsi

et al. 2016

Birth Defects Research

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We expand the clinical spectrum of fibrocartilaginous anomalies associated with spinal lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in spinal lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype. Birth Defects Research (Part A) 106:530-535, 2016. © 2016 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 99%

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma

Accogli

Pavanello

Accorsi

et al. 2016

Birth Defects Research

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

et al. 2017

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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.

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

et al. 2017

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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

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A case of cephalomelia discovered in a baby born in Niger

Cited by 5 publications

References 18 publications

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma

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

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