Figure 3 - uploaded by Enio Moura
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Types of cleft. In each group, complete unilateral or bilateral clefts are shown. However, a cleft from Group I can be left-or right-sided and affect only the lip, the lip and the alveolar process, or include the entire extension of the primary palate, as shown in the illustration. Likewise, a cleft from Group II may affect only the soft palate or the soft palate and the hard palate.
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Pre Nasoalveolar molding (PNAM) was developed to reduce the severity of the initial cleft alveolar and nasal deformity. The nasoalveolar moulding appliance (NAM) consists of an intraoral moulding plate with nasal stents to mould the alveolar ridge and nasal cartilage concurrently. Use of the NAM technique also reduces surgical columella reconstruct...
Citations
... One potential factor is maternal cocaine abuse during pregnancy that remains one of the most significant etiological factor in this regard [9][10][11][12]. Cocaine, a potent stimulant drug, can readily cross the placenta and expose the developing fetus to its pharmacological effects [11,12]. ...
... While some animal studies [9,10] have suggested potential mechanisms through which cocaine could interfere with normal developmental processes, translating these findings to humans is not straightforward. Human studies have yielded mixed results, with many factors such as dosage, timing, and the presence of other confounding factors (like use of other substances, nutrition, access to prenatal care) complicating the picture [11,12]. ...
... The literature presents a body of evidence suggesting a potential association between maternal cocaine exposure during pregnancy and the occurrence of congenital anomalies in the developing fetus [5][6][7][8][9][10][11][12][15][16][17][18][19][20][21][22]. However, it remains a formidable challenge to definitively ascertain the precise risk of major structural malformations directly attributable to in utero cocaine exposure, and no pathognomonic defect has been unequivocally identified thus far. ...
Background
The study aimed to investigate the association between maternal cocaine abuse during pregnancy and the prevalence of cleft lip/palate (CL/P) in offspring, synthesizing existing evidence through a systematic review and meta-analysis. CL/P is a congenital craniofacial anomaly with complex etiology, and prior research has suggested potential links between maternal cocaine use and CL/P. However, these associations remain inconclusive.
Methods
A comprehensive literature search was conducted to identify relevant studies published up to the study’s cutoff date in September 2021. Several databases were systematically searched using predefined search terms. Inclusion criteria were set to encompass studies reporting on the prevalence of CL/P in infants born to mothers with a history of cocaine use during pregnancy, with a comparison group of non-cocaine-using mothers. Data were extracted, and a meta-analysis was performed using a random-effects model to calculate pooled odds ratios (OR) and relative risks (RR) with their respective 95% confidence intervals (CI).
Results
The review included data from 4 studies that met the inclusion criteria. The combined OR from two studies was 0.05 (95% CI: 0.00, 4.41), which does not suggest a statistically significant association between prenatal cocaine exposure and the incidence of CL/P due to the confidence interval crossing the null value. Additionally, the combined RR was 0.17 (95% CI: 0.04, 0.66), indicating a statistically significant decrease in the risk of CL/P associated with prenatal cocaine exposure. These results, with an OR that is not statistically significant and an RR suggesting decreased risk, should be interpreted with caution due to considerable heterogeneity and variability among the included studies’ findings. Further research is needed to clarify these associations.
Conclusion
The findings from this systematic review and meta-analysis suggest that maternal cocaine use during pregnancy is not a statistically significant independent risk factor for the development of CL/P in offspring. These results underscore the multifactorial nature of CL/P etiology and emphasize the importance of considering other genetic, environmental, and nutritional factors in understanding the condition’s origins. While the study provides important insights, limitations such as data heterogeneity and potential confounders should be acknowledged. Future research should adopt rigorous study designs and explore a broader range of potential risk factors to comprehensively elucidate CL/P development.
... Some environmental factors known to induce cleft lip/palate (CL/P) are excessive doses of vitamin A (125,000 UI/kg BW at 17-22 days of gestation) or aspirin (400 mg/kg/day at 23-30 days of gestation) in bitches, various substances such as griseofulvin, anabasine, metronidazole, primidone, sulphonamides, and 6-diazo-5-oxo-L-norleucine (DON), viral infections, cytostatic drugs, stress, or hormonal factors [76,77]. ...
Simple Summary
A stillborn male kitten from an accidental inbreeding was examined through different paraclinical methods, such as radiographic, CT, and cytohistological examination, due to the existence of severe neural tube defects associated with other congenital defects. The malformations observed included exencephaly–anencephaly, closed cranial spina bifida at the level of cervical vertebrae, maxillary brachygnathia, kyphoscoliosis, palatoschisis, and partial intestinal atresia. These severe malformations have a multifactorial cause in which both genetic and environmental factors can intervene. Inbreeding increases the possibilities of genetic defects to be expressed in the phenotype.
Abstract
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.
... In retrospective studies, CP has been recognized as the most common malformation, with a prevalence of 1.3% [9]. Its frequency varies by breed, with 0.11% of Pyrenees Shepherds, 0.6% of Boxers, and 2.2% of Beagles affected [10]. It has also been shown that breeds from the mastiff/terrier genetic cluster are more predisposed to orofacial clefts [1]. ...
... In the present study, we described a unique finding of four full-sibs with CLP or CP in a single litter of seven puppies of Staffordshire Bull Terriers. CLP has been previously described in this breed, but detailed information on the morphology of the malformations has been scarce [10]. The puppies examined in this study showed diversity regarding the morphological changes in lips and palate. ...
... Following the classification of orofacial abnormalities described by Moura et al. [10], the puppies reported in this study fell into group III (cleft covering primary and secondary palate: total or partial impairment). Clefts involving just the lip without the palate may not require surgical intervention since they have only aesthetic effects. ...
Cleft lip and palate (CLP) is a well-known congenital defect in dogs, characterized by abnormal communication between the oral and nasal cavities. Its incidence rate is high and affects all dog breeds. The etiology of CLP is thought to be multifactorial, caused by both genetic and environmental factors. In this study, four puppies out of seven from a single litter of Staffordshire Bull Terrier dogs with craniofacial abnormalities were anatomically and genetically examined. Classical anatomical preparation, dyed-latex-injection of the arterial vessels, and cone-beam computed tomography were used. The puppies showed variations in their observable abnormalities: three of them had a complete cleft of the palate on both sides, while one puppy had a cleft on the right side only. Cytogenetic analysis showed a normal diploid chromosome number (2n = 78,XX or 78,XY) in the studied animals. Known genomic variants of CLP were examined in the ADAMTS20, DLX6, and MYH3 genes, but no mutations were identified. Further studies are needed to identify the breed-specific genetic variants associated with canine CLP.
... Outras alterações congênitas já foram relatadas na raça buldogue francês, como as má-formações vertebrais 17 , má-formações de conchas nasais na síndrome obstrutiva das vias aéreas dos braquicéfalos 18,19 , hipospadia 4,9 e lábio leporino 20 . No entanto, até o momento, não há relatos na literatura a respeito do aparecimento de onfalocele concomitante à hipospadia nessa raça. ...
Hypospadia and omphalocele are rare congenital defects reported in various breeds, including the Doberman Pinscher, English Bulldog, French Bulldog, Basenji, and Dalmatian. Hypospadia is characterized by a defect in the fusion of the penile foreskin associated with persistent opening of the ventral urethral sulcus. Omphalocele is an abdominal wall defect, most common at the umbilical site, that may lead to evisceration of abdominal organs. Some dog breeds are suspected to have an hereditary predisposition to these conditions, but the etiology is still poorly understood, and believed to be multifactorial. We report a case of omphalocele and hypospadia in a French Bulldog neonate on which euthanasia was performed.
... The three breeds are also all relatively short in stature being less than 17 inches tall at the shoulder. In addition to morphological features, certain diseases are found at a high prevalence across all 3 breeds such as vertebral malformations [9][10][11][12][13], cleft lip and cleft palate [14][15][16], congenital heart disease [17,18,19], and glioma [5,20,21]. ...
Domestic dog breeds exhibit remarkable morphological variations that result from centuries of artificial selection and breeding. Identifying the genetic changes that contribute to these variations could provide critical insights into the molecular basis of tissue and organismal morphogenesis. Bulldogs, French Bulldogs and Boston Terriers share many morphological and disease-predisposition traits, including brachycephalic skull morphology, widely set eyes and short stature. Unlike other brachycephalic dogs, these breeds also exhibit vertebral malformations that result in a truncated, kinked tail (screw tail). Whole genome sequencing of 100 dogs from 21 breeds identified 12.4 million bi-allelic variants that met inclusion criteria. Whole Genome Association of these variants with the breed defining phenotype of screw tail was performed using 10 cases and 84 controls and identified a frameshift mutation in the WNT pathway gene DISHEVELLED 2 (DVL2) (Chr5: 32195043_32195044del, p = 4.37 X 10⁻³⁷) as the most strongly associated variant in the canine genome. This DVL2 variant was fixed in Bulldogs and French Bulldogs and had a high allele frequency (0.94) in Boston Terriers. The DVL2 variant segregated with thoracic and caudal vertebral column malformations in a recessive manner with incomplete and variable penetrance for thoracic vertebral malformations between different breeds. Importantly, analogous frameshift mutations in the human DVL1 and DVL3 genes cause Robinow syndrome, a congenital disorder characterized by similar craniofacial, limb and vertebral malformations. Analysis of the canine DVL2 variant protein showed that its ability to undergo WNT-induced phosphorylation is reduced, suggesting that altered WNT signaling may contribute to the Robinow-like syndrome in the screwtail breeds.
Cleft lip (CL), palate (CP), or both (CLP) are one of the most common congenital abnormalities in humans, causing a heavy burden to the affected and their next of kin. We examined biopsy material from CL of seven children: Six 2 to 6 month-old babies and one 4-year-old boy. The samples were taken at the first surgical cleft lip repair. Light microscopy (LM) haematoxylin and eosin stained paraffin sections and toluidine blue stained 0.5–1 μm Durcupan sections from material processed for transmission electron microscopy (TEM), revealed abnormal “ragged” wavy muscle fibres in all seven children. The routine TEM confirmed our results LM; we found no other changes in the soft tissues in TEM; blood vessels of loose connective tissue and nerve fibres were normal. Therefore, we believe that myopathic changes in the cleft lip muscle fibres cannot be of neuronal origin.
Simple Summary
Congenital abnormalities in animals are a major concern for breeders due to the increased economic loss they entail. The aim of this article was to describe a congenital bilateral cleft lip and jaw and an abnormal opening of the penile urethra in a crossbred calf. Clinical examination, computed tomography, and whole genome sequencing were performed to describe and identify a possible cause of the abnormalities. The whole genome investigation indicates the involvement of multiple genes in the two birth defects in this case.
Abstract
Congenital abnormalities in animals, including abnormalities of the cleft lip and jaw and hypospadias have been reported in all domesticated species. They are a major concern for breeders due to the increased economic loss they entail. In this article, we described a congenital bilateral cheilognathoschisis (cleft lip and jaw) with campylognathia in association with penile hypospadias and preputial hypoplasia with failure of preputial fusion in a Bos taurus crossbred Piedmontese × Wagyu calf. Clinical examination, computed tomography, and whole genome sequencing were performed to describe and identify a possible cause of the abnormalities. Clinical examination revealed a bilateral cheilognathoschisis of approximately 4 cm in length and 3 cm in width in the widest part, with computer tomography analyses confirming the bilateral absence of the processus nasalis of the incisive bone and the lateral deviation of the processus palatinus towards the left side. Genomic data analyses identified 13 mutations with a high impact on the products of the following overlapped genes: ACVR1, ADGRA2, BHMT2, BMPR1B, CCDC8, CDH1, EGF, F13A1, GSTP1, IRF6, MMP14, MYBPHL, and PHC2 with ADGRA2, EGF, F13A1, GSTP1, and IRF6 having mutations in a homozygous state. The whole genome investigation indicates the involvement of multiple genes in the birth defects observed in this case.
The present review aims toward a better understanding of the nutrition of newborn puppies and kittens. The post-natal period is very sensitive in dogs and cats, as in other animal species. During the first two weeks of life, puppies and kittens are at high risk of dehydration, hypothermia, and hypoglycemia, as well as infectious diseases as they start to acquire the physiological functions of the adult. Neonatal hepatic glycogen storage is low, and newborns depend on colostrum intake to survive. Colostrum provides immunoglobulins and other important substances such as lipids and carbohydrates. Immunoglobulins are central to the immunological link that occurs when the mother transfers passive immunity. The mechanism of transfer varies among mammalian species, but in this review, we focused our attention on dogs and cats. Furthermore, there are components of colostrum which, although their presence is not absolutely necessary, play an important role in nutrition. These components have received considerable interest because of their presumed safety and potential nutritional and therapeutic effects both in humans and animals; however, unfortunately, there are few recent studies in companion animals. Here, we have gathered the published articles that describe studies involving different species of animals, emphasizing companion animals. In particular, the purpose of this narrative of the nutritional and functional proprieties of queens’ and bitches’ colostrum.
Synopsis
“Brachycephaly” is generally considered a phenotype in which the facial part of the head is pronouncedly shortened. While brachycephaly is characteristic for some domestic varieties and breeds (e.g., Bulldog, Persian cat, Niata cattle, Anglo-Nubian goat, Middle White pig), this phenotype can also be considered pathological. Despite the superficially similar appearance of “brachycephaly” in such varieties and breeds, closer examination reveals that “brachycephaly” includes a variety of different cranial modifications with likely different genetic and developmental underpinnings and related with specific breed histories. We review the various definitions and characteristics associated with brachycephaly in different domesticated species. We discern different types of brachycephaly (“bulldog-type,” “katantognathic,” and “allometric” brachycephaly) and discuss morphological conditions related to brachycephaly, including diseases (e.g., brachycephalic airway obstructive syndrome). Further, we examine the complex underlying genetic and developmental processes and the culturally and developmentally related reasons why brachycephalic varieties may or may not be prevalent in certain domesticated species. Knowledge on patterns and mechanisms associated with brachycephaly is relevant for domestication research, veterinary and human medicine, as well as evolutionary biology, and highlights the profound influence of artificial selection by humans on animal morphology, evolution, and welfare.
This chapter focuses on the surgical treatment of orofacial clefts in dogs and cats. The relevant surgical anatomy is reviewed and the techniques are described. The prognostic aspects and possible complications are discussed.
