Topic:Congenital Disorders
Congenital disorders in horses encompass a range of structural, functional, or metabolic anomalies present at birth. These disorders may arise from genetic mutations, environmental factors, or a combination of both, affecting various systems in the equine body. Common congenital disorders in horses include cleft palate, umbilical hernias, and limb deformities. The diagnosis and management of these conditions require a multidisciplinary approach involving veterinary genetics, surgery, and rehabilitation. This page compiles peer-reviewed research studies and scholarly articles that explore the etiology, diagnosis, and management strategies for congenital disorders in equine medicine.
Epidermal (infundibular) and dermoid cysts in the dorsal midline of a three-year-old thoroughbred-cross gelding. Epidermal (infundibular) and dermoid cysts are unusual in the horse in contrast with other species. The diagnosis and treatment of six lesions in the dorsal midline of a three-year-old Thoroughbred-cross gelding is described. The lesions were believed to be congenital and presented asymptomatically but required attention because five of them were in the saddle region, thus preventing ridden exercise. Under general anaesthesia, the cysts were excised and subsequently examined histologically. The horse recovered uneventfully. This report is novel in that such midline cysts have not previously be...
Congenital tumours and tumour-like lesions in domestic animals. 3. Horses. A review. The literature on congenital tumours and tumour-like lesions in horses was reviewed. Included were embryonic tumours and teratomas. Special attention was paid to the ubiquitous adenomatous hyperplasia of the placenta. It appears that temporal teratomas, interstitial hamartomas and placental adenomatous hyperplasia are unique in the horse. Benign teratoma of the undescended testis is far more frequent in the horse than in other species. In horses, as in calves and pigs, congenital skin tumours were of papillomatous, vascular and melanocytic types. The sporadic occurrence of congenital tumours i...
Azoospermia associated with bilateral segmental aplasia of the ductus deferens in a stallion. A 3-year-old Quarter Horse halter stallion was referred for routine semen evaluation. Physically, the stallion's reproductive organs appeared normal. Repeated semen evaluations did not reveal any spermatozoa. Because high activities of alkaline phosphatase are detected in the epididymal fluid and indicative of complete ejaculation, alkaline phosphatase activities were analyzed in several samples, which yielded activities far less than reference values and suggested a blockage of the reproductive tract. Endoscopic evaluation of the urethra and the bulbourethral, prostate, and urethral gland duc...
Aid to the antemortem diagnosis of Fell pony foal syndrome by the analysis of B lymphocytes. Fell pony foals are affected by a congenital fatal immunodeficiency that commonly leads to anaemia and lymphopenia. Previous work has shown that the foals' circulating subpopulations of CD4 and CD8 T lymphocytes are unaffected. In this study it was shown that the mean population of B lymphocytes in 10 affected foals was less than 10 per cent of that in normal foals.
[Initial management of congenital varus equinus clubfoot by Ponseti’s method]. The choice of first-line treatment for congenital varus equine clubfoot remains a controversial issue largely dependent on experience. In France, functional treatment predominates. In 1948, Ponseti proposed reducing the deformity with successive casts. Although cast treatment is a very old method, Ponseti's method is original because it is based on strict rules established from anatomic evidence. The goal is not to correct the apparent deformation, but on the contrary to impose a simultaneous supination and abduction of the foot. Once the calcaneopedal block has been derotated, percutaneous te...
Giant right atrial diverticulum in a foal. A 5-month-old male Thoroughbred foal with a history of chronic septic arthritis of the tibiotarsal joint and recent respiratory distress was euthanized and a postmortem examination performed. A giant diverticulum communicating with the lateral aspect of the right atrial cavity of the heart was observed. Histologically, the wall was comprised of myocardial tissue containing cavernous vascular spaces. There was gross and histologic evidence of right-sided heart failure. Congenital right atrial diverticula are rare anomalies in humans and have not previously been reported in foals.
Hematuria and a complex congenital heart defect in a newborn foal. A 16-hour-old foal was referred for evaluation of hematuria. A pansystolic heart murmur and left thoracic thrill were detected; laboratory diagnostics and ultrasonography identified a complex congenital heart defect. The diagnosis was confirmed at postmortem.
An ovarian interstitial cell hamartoma in a newborn foal. A case of congenital ovarian interstitial cell hamartoma in a thoroughbred foal that died of apparent nutritional myopathy (white-muscle disease) 14 h after birth is described. An incidental finding at necropsy was a pale brown, mushroom-shaped, pedunculated mass (6 x 4 x 3 cm) attached to the left ovary. On the cut surface, the mass had a peripheral rim of dense parenchyma (3-5 mm wide), surrounding a pale gelatinous core. Histologically, the mass consisted of a peripheral zone of densely packed large cells that were quite similar, morphologically, to fetal ovarian interstitial cells, and a c...
Congenital hypotrichosis in a Percheron draught horse. A blue roan Percheron foal was born with poorly circumscribed patchy alopecia of the trunk and legs. Teeth and hoof development were normal. Alopecia was progressive, becoming almost complete by 1 year of age. Histopathological findings in a skin biopsy obtained at 7 months of age were consistent with severe follicular hypoplasia. Sebaceous glands, epitrichial sweat glands and arrector pilae muscles were normal. The horse is alive and otherwise well at 6 years of age, although adult stature is considered small for this breed. The clinical history and histopathological findings are most consist...
Congenital ocular abnormalities of Rocky Mountain Horses. OBJECTIVE: To determine the incidence and describe ocular abnormalities in a cross-section of the population of Rocky Mountain Horses. Design: Prospective study. Animals: Five-hundred and fourteen Rocky Mountain Horses. Procedure: Ophthalmic examinations were performed using a slit-lamp biomicroscope and an indirect ophthalmoscope. Intraocular pressures were measured by applanation tonometry. Eyes from six horses were obtained for histologic examination. RESULTS: Cysts of the posterior iris, ciliary body, and peripheral retina were detected most frequently (249 horses), and were always located...
Developmental anomalies and abnormalities of the equine iris. The iris is derived from interaction between neural crest tissue and the adjacent neuroectoderm of the optic cup. Developmental anomalies of the equine iris are common, and include congenital miosis, iris cysts, various manifestations of iris hypoplasia, heterochromia, and persistent pupillary membrane remnants. They may be found alone or in combination with other ocular defects.
[Case report: (erythro)keratoderma variabilis in a newborn foal]. A case of congenital (Erythro)keratoderma variabilis in a newborn foal is described. The clinical and histological findings are presented.
Congenital hepatic fibrosis and cystic bile duct formation in Swiss Freiberger horses. Congenital hepatic fibrosis with autosomal recessive or dominant inheritance has been described in humans, cats, piglets, and dogs. In horses, only two cases of congenital hepatic fibrosis have been previously reported. This retrospective study of records from the Institute for Animal Pathology, University of Berne, identified 30 foals with liver lesions compatible with congenital hepatic fibrosis. Anamnestic data revealed clinical signs of severe liver injury in most affected animals. Pathologic examination showed severely enlarged, firm livers with thin-walled cysts. Histologically, the live...
Omphalocele in a foal. An omphalocele was detected at birth in a male Arabian foal. The mass contained small intestine and after releasing a constricting band at the body wall, the contents slipped easily back into the abdomen. On the outside was the hairless pink membrane. The interior, now empty of small intestine, contained the umbilical arteries and vein, and a large urachus that extended from the bladder to the opening at the extremity of the mass. Six days after corrective surgery the foal was sent home and remained healthy.
The horse homolog of congenital aniridia conforms to codominant inheritance. Anterior segment dysgenesis syndrome occurs frequently in Rocky Mountain horses and has two distinct ocular phenotypes: (1) large cysts originating from the temporal ciliary body or peripheral retina and (2) multiple anterior segment anomalies including ciliary cysts, iris hypoplasia, iridocorneal adhesions and opacification, nuclear cataract, and megalocornea. To determine if anterior segment dysgenesis syndrome is heritable in horses we performed ophthalmic examinations and collected pedigree information on horses (n = 516) in an extended Rocky Mountain horse pedigree. Logistic regressive se...
Congenital atresia of the parotid duct in a horse. Congenital anomalies of the equine salivary glands and their ductal systems are rare. In man, parotid duct atresia is thought to be due to a congenital malformation of the first branchial arch. One horse with unilateral parotid salivary duct atresia is described. Imaging modalities available for accurate diagnosis, and treatment options, are reviewed.
Jejunoileal incarceration and strangulation through a splenic defect in a mare. A 6-year-old, standardbred mare was presented for colic of 12 h duration. Transrectal palpation revealed intestinal distension of unknown cause. The mare was euthanized. At necropsy, segmental jejunoileal incarceration and strangulation through an opening in the spleen was observed. This opening was considered to be a congenital defect.
A congenital malformation of the maxilla of a horse. A 1-month-old male American Paint Horse was evaluated for a hard swelling on the right side of the maxillary region. On radiographs there was a large, expansile outpouching of the right maxillary bone between the second and third premolar teeth. Computed tomography further characterized the expansile lesion to have a soft tissue component and to originate in the region of a caudal maxillary tooth. Surgical reconstruction of the defect was unsuccessful and the animal was euthanetized. Based on failure to find histopathologic evidence of a neoplasm or cyst, the diagnosis was a congenital malform...
Persistent right aortic arch in a yearling horse. A 14-month-old filly with chronic pharyngitis was diagnosed with incomplete esophageal constriction and megaesophagus due to a persistent right aortic arch. This report is unusual because clinical signs of respiratory dysfunction secondary to chronic regurgitation occurred prior to the recognition of dysphagia.
Congenital dental disease of horses. Equine congenital dental deformities are not limited merely to those presented here; however, the examples discussed offer the reader an appreciation for the range of severity and complexity that may be found in affected horses. The veterinarian is obligated to provide the best possible care for the patient and to relieve animal suffering. The lack of definitive evidence for heritability of many of these defects can place the veterinarian in an untenable position, particularly when presented with literature that proclaims or suggests without evidence that a particular condition is inherited. I...
A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease. Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents and some patients have demonstrated EDNRB defects. First, we identified a full-length cDNA for horse EDNRB . This cDNA fragment contained a 1329 bp open reading frame which encoded 443 amino acid residues. The predicted amino acid sequence was 89, 91 and 85% identical to human, bo...
Congenital defects in newborn foals of mares treated for equine protozoal myeloencephalitis during pregnancy. Three weak, recumbent neonatal foals with skin lesions, including a thin wooly coat, were born to mares being treated for equine protozoal myeloencephalitis. Mares received sulfadiazine or sulfamethoxazole-trimethoprim, pyrimethamine, folic acid, and vitamin E orally. Foals were anemic, leukopenic, azotemic, hyponatremic, and hyperkalemic. Serum folate concentrations in the 3 foals and 2 mares were lower than those reported in the literature for clinically normal brood mares. Treatment was unsuccessful. For each foal, necropsy revealed lobulated kidneys with thin cortices and a pale medulla, a...
The effects of partial thyroidectomy on the development of the equine fetus. A syndrome of congenital hypothyroidism and dysmaturity has been an important cause of reproductive loss and foal mortality in western Canada. The cause and pathogenesis of this syndrome is under investigation. One issue to be addressed is whether all the anomalies present in affected foals are produced concurrently by the same agent, or if affected foals are primarily hypothyroid in utero which induces the associated lesions. This study was designed to document the effects of fetal thyroidectomy, at about 215 days of gestation, on the growth and development of the equine fetus and to compare ...