Craniofacial malformations in a stillborn mixed-breed dog as a cause for dystocia.

This case report describes the findings of craniofacial anomalies associated with dystocia in a mixed-breed bitch. A bitch in labour was presented for evaluation of dystocia, and an emergency caesarean section was performed. Two pups with craniofacial abnormalities were delivered by hysterotomy. One pup was stillborn, with congenital anomalies including palatoschisis (cleft palate), cheiloschisis (cleft lip), an open fontanelle, and a narrow teardrop-shaped skull. The second pup was delivered alive and had cheiloschisis. Craniofacial malformations are a reported cause of dystocia in the dog, usually due to obstruction. However, dystocia in the reported case is presumed to have developed because the pup's craniofacial malformations prevented stimulation of uterine contractions. To the authors' knowledge, this is the first case report to describe craniofacial abnormalities affecting 100% of the litter and is the first known report to describe the relationship between craniofacial abnormalities and presumptive primary uterine inertia.

Monosymmetros Cephalothoracopagus Tetrabrachius and Tetrapus Piglets with Syndromic Evolution.

Conjoined twins are rare congenital malformations that have been reported in mammals. Two different cases are presented in this study. Case No. 1 features monocephalic, thoracopagus-conjoined twin piglets with anencephaly and palatoschisis of the Pietrain breed, and case No. 2 features monocephalic, thoracopagus conjoined twin piglets with palatoschisis and bifid root tongue of a mixed breed. These cases were examined using post-mortem and computed tomography (CT) examinations. In both cases, the conjoined symmetrical twins had a single head, one neck, and fused thoracic cavities, while the abdominal cavities were separated. Similarly, in both cases, they had four forelimbs and four hindlimbs and duplicated foramen magnum. During CT examination, in case No. 1, severe abnormalities were observed in the skull and vertebral column. In the left twin, occult dysraphism was seen from the C2 vertebra until the end of the vertebral column, and in the right twin, from the C3 vertebra until the end of the state vertebral level. In case No. 2, the oral cavity contained a tongue with a bifid root connected with one hyoid bone, and the soft palate presented a small cleft. During CT examination, the parietal bone and the occipital bones were partially duplicated. This case also presented occult dysraphism, but only in the cervical vertebrae, C1-C6 for the left twin and C1-C5 for the right twin. In both cases, abnormalities of the internal organs were revealed during necropsy. Conjoined twins with multiple congenital anomalies presented here enhance our understanding of the various clinical forms of conjoined cases in veterinary medicine.

Medially Positioned Single Mucoperiosteal Flap With and Without Allograft Membrane for Repair of Congenital Cleft Palate in 4 Dogs.

Congenital cleft of the secondary palate occurs when there is failure of one or both maxillary processes to fuse with the nasal septum during embryonic development. Palatal cleft severity can range from a simple focal fissure of the caudal soft palate to full-thickness defects of varied widths involving the entire soft and hard palate. A novel staged medially positioned single mucoperiosteal flap technique in 4 canine patients is reported. This flap technique is based on the major palatine and infraorbital arteries with strategic extractions of maxillary teeth and placement of allograft membrane in 3 of 4 cases for treatment of clefts wider than may be repaired effectively by traditional methods.

Congenital malformations in brachycephalic dogs: A retrospective study.

The popularity of brachycephalic dogs has increased in recent years due to their docile temperament and peculiar features. The historical inbreeding and consequent lack of genetic diversity involved in the development of these breeds led to an increase in the manifestation of deleterious genes that may lead to malformations. In addition, there are serious health issues intrinsic to the conformation, mainly attributed to these extreme characteristics. Therefore, this retrospective study aimed to observe the frequency of malformations in brachycephalic dogs compared to the pure and mixed breeds (MB). The medical records of pregnant bitches admitted at the Service of Obstetrics and Animal Reproduction (SORA) from January 2017 to December 2021 were retrieved from the hospital's computer system and analyzed one by one. Seven hundred sixty-eight neonates born from 168 litters were included in this study. Of these litters, 72.6% (122/168) were brachycephalic. Malformations were found in 52 puppies, with an incidence of 6.77% (52/768). Of the 32 litters that produced malformed puppies, 28 were brachycephalic (87.5%). In total, 23 types of malformations were registered, the most common being cleft palate (1.30%) and anasarca (1.17%). Ten of the puppies (10/52; 19.23%) presented two or more associated malformations. Bitches above 7 years were more prone to present malformed puppies in their litters. Brachycephalic breeds were 3.03 times more likely to present malformed neonates when compared to other breeds; the odds ratio increased to 5.07 when modern brachycephalic was compared to ancestral brachycephalic. Regarding the mode of delivery, elective cesarean sections accounted for 66.6% of births while 19.64% were eutocic vaginal deliveries, and 13.69% were dystocic. The presence of malformed puppies in a litter causes suffering for the owner, the bitch and for the puppy itself, therefore, the veterinarian plays a key role in this scenario. Knowledge about congenital abnormalities, their causes, diagnosis, and approach is essential to reduce the incidence of malformations and improve the quality of life of these animals.

Chromosomal imbalance in pigs showing a syndromic form of cleft palate.

BACKGROUND: Palatoschisis or cleft palate is a known anomaly in pigs resulting in their death. However, little is known about its aetiology. A detailed description of the phenotype was derived from necropsy and by computed tomography revealing that all 20 cases also exhibited hypodontia and renal cysts. Furthermore, a genetic origin was assumed due to dominant inheritance as all 20 recorded cases were confirmed offspring of a single boar. RESULTS: Single nucleotide variant (SNV) genotyping data were used to map the defect in the porcine genome and led to the detection of a chromosomal imbalance in the affected offspring. Whole genome sequencing of an affected piglet and a normal full sib was used to identify a chromosomal translocation and to fine map the breakpoints in the genome. Finally, we proved that the boar, which sired the malformed piglets, carried a balanced translocation. The detected translocation of Mb-sized segments of chromosome 8 and 14 had not been previously observed during karyotyping. All affected offspring were shown to be carriers of a partial trisomy of chromosome 14 including the FGFR2 gene, which is associated with various dominant inherited craniofacial dysostosis syndromes in man, and partial monosomy of chromosome 8 containing MSX1 known to be associated with tooth agenesis and orofacial clefts in other species. CONCLUSIONS: This study illustrates the usefulness of recently established genomic resources in pigs. In this study, the application of genome-wide genotyping and sequencing methods allowed the identification of the responsible boar and the genetic cause of the observed defect. By implementing systematic surveillance, it is possible to identify genetic defects at an early stage and avoid further distribution of congenital disorders.

Management of Cleft Palate in Puppies Using A Temporary Prosthesis: A Report of Three Cases.

Cleft palate in dogs is a congenital defect that mostly leads to euthanasia of the affected puppy. If an attempt is made to raise the puppy, it is generally fed via an orogastric tube. Here, we describe the management of cleft palate in three puppies (two Boxers, one Collie) using a customised temporary prosthesis, which allowed the puppies to be bottle-fed and successfully raised by their owners (Cases 2 and 3) and the author (Case 1). The temporary palatal prosthesis was manufactured from a mouthguard intended for human children, which is made of thermoplastic silicone. The preparation procedure was simple and cost-effective. All puppies underwent corrective surgery at 5⁻6 months of age. After surgery, one of the Boxer puppies showed mandibular mesioclusion, while the other two showed no aberrations. All puppies gained the same amount of weight as their littermates, although the weight gain of the two Boxers was slower than that of their littermates. In summary, this case report describes an easy and effective way to raise puppies with cleft palate until corrective surgery can be performed.

How can the process of postnatal adaptation be changed by the presence of congenital abnormalities of lip and palate.

Despite modern approaches in molecular biology and genetics, we are still not able to identify the actual cause in more than 50% of all congenital defects. One-half of the unidentified cases is referred to as "multifactorial". Detailed prenatal investigation of the fetus can discover the presence of congenital abnormality, which can worsen the process of postnatal adaptation. Retrospective analysis of newborns admitted to the Neonatal Department of Intensive Medicine (NDIM) in 2012-2016 with the aim to analyze how the process of postnatal adaptation can be changed by the presence of congenital abnormalities of lip and palate. During a five-year period, 13 newborns were admitted to NDIM (2 premature; 11 term newborns). Chromosomal abnormality was confirmed in one patient (Down syndrome) and in one patient suspicion of Patau syndrome was found. Twelve newborns had complete cheilognathopalatoschisis. Two premature newborns and two term newborns had perinatal asphyxia. In this group of patients, 33% had respiratory insufficiency without the presence of congenital heart abnormality, 66% had congenital heart abnormality with respiratory insufficiency, and 2 patients had feeding problems. Only one patient had a positive family history. The diagnosis of complete cheilognathopalatoschisis was confirmed prenatally only in 9 patients. We confirmed that clinical consequences of congenital abnormalities of lip and palate depend on the nature, localization and range of abnormalities, as well as on the genetic background and accompanying congenital abnormalities. Prenatal confirmation of the presence of congenital abnormalities has an important influence on the postnatal management of a patient.