Anencephaly associated with cleft palate in a Bull Terrier litter: case report

Luz, Marcelline Santos; Bobány, Denise de Mello; Silva, Maria Eduarda Monteiro; Carvalho, Carla FernandaMoura

doi:10.9790/2380-0909021820

Cited by 4 publications

(4 citation statements)

References 7 publications

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“…This might indicate a comparable situation to the variability of NTD‐related phenotypes among human families (Detrait et al, 2005). Similar cases of anencephaly have been reported in pinscher, bull terrier and English pointer dogs, often alongside cleft palate (da Silva et al, 2020; dos Anjos Nonato et al, 2019; Santos Luz et al, 2016).…”

Section: Cranial Ntdssupporting

confidence: 59%

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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Section: Cranial Ntdssupporting

confidence: 59%

Comparison of inherited neural tube defects in companion animals and livestock

Zarzycki

Thomas

Mazrier

2020

Birth Defects Research

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“…Another case with anencephaly associated with cranioschisis was reported in Pincher breed [18]. In all cases, the puppies were stillborn [14,19], died soon after parturition [18] or were sacrificed soon after birth due to the severe malformations [15], being unable to suckle and to coordinate. Cases of anencephaly have also been reported in wildlife, captive or free-ranging (bears, dolphins).…”

Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

“…Anencephaly is reported rarely on OMIA ("Online Mendelian Inheritance in Animals", a database intended to list all hereditary diseases with simple determinism) in calves (OMIA:000044-9913) [8][9][10], sheep (OMIA:000044-9940) [11], greater Indian rhinoceros (Rhinoceros unicornis) (OMIA:000044-9809), and Indo-pacific bottlenose dolphins (Tursiops aduncus) (OMIA000044-79784) [12], but also in bears [13] and dogs [14][15][16][17][18]. In dogs, in almost all cases, puppies affected by anencephaly also presented with other malformations such as brachygnathia [14], atresia ani, hydrocephalus [16], gastroschisis, amelia of the right anterior limb [17], cleft palate [15], or cleft palate and cleft tongue [19]. Some rare cases with severe NTDs were reported in captive wild animals, such as a horned rhinoceros (Rhinoceros unicornis) [20], and a brown bear (Ursus arctos arctos) [13], where the etiology is more complicated to identify because these animals are kept under strict health control, so the influence of environmental factors is minimal, although possible nutritional deficiencies, especially in folic acid, are proposed.…”

Section: Introductionmentioning

confidence: 99%

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Exencephaly–Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat

Marc,

Savici,

Sicoe

et al. 2023

Animals

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Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure. In CT scans, the caudal part of the frontal bone, the fronto-temporal limits, and the parietal bone were observed to be missing. CT also revealed that the dorsal tubercle of the atlas, the dorsal neural arch, and the spinal process of the C2–C7 bones were missing. In conclusion, the kitten was affected by multiple congenital malformations, a combination of exencephaly–anencephaly, maxillary brachygnathism, closed cranial spina bifida at the level of cervical vertebrae, kyphoscoliosis, palatoschisis, and partial intestinal atresia. The importance of employing imaging techniques cannot be overstated when it comes to the accurate diagnosis of neural tube defects.

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Presence of congenital anomalies in three dog litters

Ortega‐Pacheco

Lezama‐García²,

Colin-Flores

et al. 2020

Reprod Domestic Animals

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This report describes multiple congenital malformations found in three dog litters delivered by emergency caesarean section. In all of the litters, some puppies were born alive but were euthanized because of the seriousness of their malformations and low probability of survival. In two litters, gastroschisis was associated with amelia of the right anterior limb. Other malformations such as anencephaly were also found in three puppies among the different litters. This report describes the morphological findings of the affected puppies, discusses the most appropriate terminologies for each case and highlights the importance of an epidemiological survey to identify potential factors associated with the cases.

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Anencephaly associated with cleft palate in a Bull Terrier litter: case report

Cited by 4 publications

References 7 publications

Comparison of inherited neural tube defects in companion animals and livestock

Comparison of inherited neural tube defects in companion animals and livestock

Exencephaly–Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat

Presence of congenital anomalies in three dog litters

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