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. Electronic supplementary material The online version of this article (10.1186/s12864-019-5711-4) contains supplementary material, which is available to authorized users.

Reasons for performing study: To investigate the racing performance of Thoroughbred horses with osseous cyst-like lesions (OCLLs) in the distal phalanx causing lameness and treated conservatively.Objectives: To assess horses' ability to race and perform after radiographic identification of OCLL in the distal phalanx of Thoroughbred horses with lameness at the time of detection and undergoing conservative treatment.Study Design: Retrospective case control study.Methods: The clinical database of one equine clinic was reviewed in a 10-year period for Thoroughbreds showing lameness localized to the foot and a radiographic diagnosis of OCLL in the distal phalanx. Sex, age at time of detection of the OCLL, degree of lameness, affected limb, and treatment were recorded. Successful performance of horses was assessed by racing at least once after detection of the OCLL and maximum racing performance rating (RPR). Radiographic features such as size, location, sclerotic rim of the OCLL and irregularity of the articular surface of the distal phalanx were compared to successful performance using univariable statistical analysis. Successful performance of horses with OCLL was compared to a control group of maternal siblings by parametric testing.Results: Twenty-two horses met the inclusion criteria. Thirteen horses raced after the detection of OCLLs. Eight did not race, one case had not yet reached racing age, resulting in 62% (13/21) of racing age racing at least once. The number of successfully performing horses with an OCCL was significantly lower compared to their maternal siblings [p = 0.03, Odds ratio (OR) = 0.30]. If horses with OCLL in the distal phalanx raced, their RPR was similar to their maternal siblings. No significant association was found between radiographic features of OCLLs and successful performance, but OCLLs in the left forelimb carried a more favorable outcome for racing (p = 0.02, OR = 2.33 95%CI 1.27, 4.27) compared to OCLLs in any other limb.Conclusions: Horses with lameness and an OCLL in the distal phalanx managed conservatively are less likely to race when compared to their maternal siblings. If horses with OCLLs in the distal phalanx are able to race, their performance, measured as RPR, was comparable to their maternal siblings. Due to the small numbers in this study the results should be interpreted carefully.

Introduction Fracture configuration is often more complex than is radiographically appreciable. The objective of this study is to describe the influence of pre-operative computed tomography (CT) for surgical planning in a variety of fracture types. This has not been described in previous studies. Materials and methods All cases with pre-operative radiographs, admitted for CT and surgical repair of a suspected limb fracture from January 2010-December 2020 were reviewed. CT was acquired under general anaesthesia in a multi-slice helical scanner; any surgery was then performed immediately. Three diplomates (two surgical; one diagnostic imaging) performed a blinded retrospective review of the radiographs and CT for each horse. A consensus decision was made on any change in surgical plan prior to and after CT review, and cases divided into three categories: CT of major, intermediate or minor relevance, as previously described by Genton et al, 2019. Results 55 cases were collated. Thoroughbred racehorses predominated. The median age was 3 years. A diverse range of fractures were presented: proximal phalanx (18/55), carpal (17/55), metacarpal/tarsal (11/55), sesamoid (5/55), tarsal (3/55), and middle phalanx (1/55). In 13 of 55 cases (23.6%, 95% CI[12%,35%]) CT was of major relevance. In 21 of 55 cases CT was of intermediate relevance (38.2%, 95% CI[25%,51%]). In 21 of 55 cases CT was of minor relevance (38.2%, 95% CI[25%,51%]). A Fisher’s exact test demonstrated no statistical difference in CT relevance between fracture types (p<0.05). Discussion/Conclusions This study demonstrates that CT has a significant role in surgical planning, and in the majority (61.8%) of cases added additional information or significantly changed the surgical plan. In all cases CT ensured confidence in surgical planning.

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This case report describes a 13-year-old cob-cross gelding presented for evaluation of recent onset hindlimb ataxia. The gelding had undergone general anaesthesia and tenoscopy of the right hindlimb digital flexor tendon sheath at a nearby clinic three months earlier and had appeared normal at routine post-operative assessments until the sudden onset of neurological deficits. Spinal trauma was suspected initially but radiography and scintigraphy were unremarkable. Due to the severity and progressive nature of the clinical signs the gelding was subjected to euthanasia. Post mortem examinations (computed tomography, dissection and histopathology) revealed spinal cord compression caused by a single extradural hydatid cyst (Echinococcus equinus), confirmed with PCR, at the level of the 15 th thoracic vertebra. This is the first report of a spinal hydatid cyst causing hindlimb ataxia and should therefore be considered a potential differential diagnosis for ataxia in the equine patient.

Summary A 13‐year‐old Thoroughbred gelding presented with acute onset respiratory distress, muscle fasciculations and ataxia during ridden exercise. On physical examination, the horse was extremely distressed and had a markedly increased respiratory rate of 92 breaths/min and heart rate of 82 beats/min. Auscultation of the thorax revealed adventitious sounds throughout the lung fields. A continuous, loud, splashing (‘water‐wheel’) murmur was evident on cardiac auscultation. A diffuse, marked interstitial and patchy alveolar pattern was present on thoracic radiographs and comet tail artefacts were found on thoracic ultrasonography. Echocardiography showed air embolisation, with the right ventricle and atrium markedly opacified with air bubbles. The horse deteriorated despite treatment with intranasal oxygen therapy, anti‐inflammatories, antimicrobials, diuretics and glycopyrrolate. Post‐mortem examination identified an expansile haematoma of the sphenopalatine sinus secondary to a rostral fracture of the skull, a previously unreported differential for vascular air embolism in the horse.