Craniorachischisis Totalis: A Case Report and Review of the Literature

Coşkun, Ayhan; Grover, Kiran; Özdemir, Öztürk

doi:10.1159/000188662

Cited by 12 publications

(17 citation statements)

References 70 publications

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“…Craniorachischisis is a rare and severe form of neural tube defects (NTDs; Wyszynski, ; Coskun et al. ). It appears in the cervico‐thoracic region, where normally a distinct median hinge point (MHP, Fig.…”

Section: Introductionmentioning

confidence: 99%

A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations

et al. 2017

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Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects. Our results showed that many of the defects found in the fetus with craniorachischisis are similar not only to anomalies previously described in the available works on musculoskeletal phenotypes seen in fetuses with anencephaly and spina bifida, but also to a wide range of other different conditions/syndromes including trisomies 13, 18 and 21, and cyclopia. The fact that similar anomalies are seen commonly not only in a wide range of different syndromes, but also as variants of the normal human population and as the 'normal' phenotype of other animals, supports Pere Alberch's unfortunately named idea of a 'logic of monsters'. That is, it supports the idea that development is so constrained that both in 'normal' and abnormal development one sees certain outcomes being produced again and again because ontogenetic constraints only allow a few possible outcomes, thus also leading to cases where the anatomical defects of some organisms are similar to the 'normal' phenotype of other organisms. In fact, this applies not only to specific anomalies but also to general patterns, such as the fact that in pathological conditions affecting different regions of the body, one consistently sees more defects on the upper limbs than on the lower limbs. Such general patterns are, again, seen in the fetus examined for this study, which had 29 muscle anomalies on the right upper limb and 22 muscle anomalies on the left upper limb, vs. seven muscle anomalies on the right lower limb and two on the left lower limb. It is therefore hoped that this work, which is part of our effort to describe and compile information on human musculoskeletal defects found in a wide range of conditions, will contribute not only to a better understanding of craniorachischisis in particular and of human congenital malformations in general, but also to broader discussions on the fields of comparative anatomy, and developmental and evolutionary biology.

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Section: Introductionmentioning

confidence: 99%

A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations

et al. 2017

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“…19 Concerning the diagnostic means, craniorachischisis can be detected on ultrasound at gestational age of 13 weeks and magnetic resonance imaging at 22 weeks. 2,11 In our case, the rachischisis was diagnosed at birth. After the There is no cure or standard treatment for craniorachischisis.…”

Section: Discussionmentioning

confidence: 64%

“…15 Effects of genetic and association with some malformatives syndromes including craniorachischisis were reported: case with trisomy 18, pentalogy of Cantrell, Fryns syndrome, sirenomelia, diprosopus twin. 2,10,16,17 Possibility of association with internal malformation was not known in our case, nor genetic anomaly.…”

Section: Discussionmentioning

confidence: 74%

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Craniorachischisis: first case reported in Madagascar

et al. 2018

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Craniorachischisis is the most severe type of neural tube defect in which almost the entire brain and spinal cord remain open. We report a case in a female fetus born at gestational week 38, with both anencephaly and open spina bifida. It was the second pregnancy of a 26-year-old woman. The first pregnancy had to be interrupted by a medical termination at 18th gestational week because of an anencephaly. We aim to report the first case documented in Madagascar.

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“…Craniorachischisis totalis is an extreme and rare example of defective closure of the neural tube during early embryogenesis where the entire brain and spinal cord remain open. It is the most severe form of neural tube defects (NTD) and is incompatible with life 1 2. Its prevalence is still unknown and there are only a few cases reported 1–3.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of craniorachischisis totalis

2022

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Craniorachischisis totalis (anencephaly with total open spina biﬁda) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.

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Craniorachischisis Totalis: A Case Report and Review of the Literature

Cited by 12 publications

References 70 publications

A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations

A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations

Craniorachischisis: first case reported in Madagascar

Prenatal diagnosis of craniorachischisis totalis

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