Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (<i>Macaca fascicularis</i>)

Moore, Charleen M.; Dick, Edward J.; Hubbard, Gene B.; Gardner, Stephanie M.; Dunn, Betty G.; Brothman, Arthur R.; Williams, Vick; Prajapati, Suresh I.; Keller, Charles; Davis, M. Duff

doi:10.1002/ajmg.a.33627

Cited by 5 publications

(2 citation statements)

References 32 publications

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“…Approximately, 15-25% of human infants with NTDs have associated defects. The most common ones, found with a frequency of 1-6%, are facial clefts, small or absent ears and eyes, limb deficiencies, cardiac defects, abdominal wall defects, and renal anomalies (Moore et al 2011).…”

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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“…For example, a case of an infant macaque ( Macaca fascicularis ), presumably a stillborn, with a wide range of abnormalities has been reported. This animal was found to have absent facial bones and cerebral hemispheres, cervical and thoracic spina bifida, poorly formed vertebrae, and the meninges and remains of spinal cord tissue were observed, with no tissue covering the cranial meninges (Moore et al, 2011). Another case of craniorachischisis, believed to be spontaneous, was noted in a squirrel monkey ( Saimiri sciureus ) (Hendrickx & Binkerd, 1993).…”

Section: Combined Cranial and Spinal Ntdsmentioning

confidence: 99%

Comparison of inherited neural tube defects in companion animals and livestock

Zarzycki

Thomas

Mazrier

2020

Birth Defects Research

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Neural tube defects (NTDs) are congenital malformations resulting from the improper or incomplete closure of the neural tube during embryonic development. A number of similar malformations of the protective coverings surrounding the central nervous system are also often included under this umbrella term, which may not strictly fit this definition. A range of NTD phenotypes exist and have been reported in humans and a wide range of domestic and livestock species. In the veterinary literature, these include cases of anencephaly, encephalocele, dermoid sinus, spina bifida, and craniorachischisis. While environmental factors have a role, genetic predisposition may account for a significant part of the risk of NTDs in these animal cases. Studies of laboratory model species (fish, birds, amphibians, and rodents) have been instrumental in improving our understanding of the neurulation process. In mice, over 200 genes that may be involved in this process have been identified and variant phenotypes investigated. Like laboratory mouse models, domestic animals and livestock species display a wide range of NTD phenotypes. They remain, however, a largely underutilized population and could complement already established laboratory models. Here we review reports of NTDs in companion animals and livestock, and compare these to other animal species and human cases. We aim to highlight the potential of nonlaboratory animal models for mutation discovery as well as general insights into the mechanisms of neurulation and the development of NTDs.

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