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.
Congenital colonic malformation (“short colon”) in a 4-month-old standardbred foal. During exploratory laparotomy of a foal with colic, a congenital abnormally developed large colon was identified incidentally. Long-term follow-up showed that the colt was more prone to gas-colic with diet and exercise changes than were other horses, due possibly to the short colon. Malformation congénitale du côlon (côlon court) chez un poulain Standardbred âgé de 4 mois. Au cours d’une laparotomie exploratrice chez un poulain atteint de colique, une malformation congénitale du gros côlon a été identifiée de façon fortuite. Un suivi à long terme a montré que le poulain était d...
Common atrioventricular canal in a newborn foal–case report and review of the literature. This paper presents the embryological and pathological features as well as the terminology and classification of common atrioventricular canal, a type of endocardial cushion defect. The authors give a complete description of an extremely rare congenital cardiac malformation in an equine neonate. The diagnosis of a complete, balanced common atrioventricular canal of type C in Rastelli's classification scheme was based on two-dimensional, contrast and colour Doppler echocardiography and subsequent postmortem gross pathology. To support our diagnosis and study the pathophysiological effect of the...
[Intersexuality in horses]. Intersexuality is a rare congenital anomaly of horses. Diagnosis of intersexuality is difficult because there are usually no specific changes in the reproductive tract visible. During a period of five years, ten patients with reduced fertility or suspected intersexuality respectively were investigated using cytogenetic, molecular genetic, histopathological and endocrinological methods. In one case a 64,XX/63,X0 mosaicism was found. In six cases male pseudohermaphroditism was verified. These patients showed a male karyotype, testes and rudimentary parts of a female reproductive tract were prese...
Management of airway difficulties during induction of general anesthesia in an American miniature horse with dwarfism. This report describes previously unreported upper airway abnormalities encountered in a 5-month-old American miniature horse colt presented for elective surgery. Caution should be exercised when administering general anesthesia or heavy sedation to individuals of this breed that present with multiple congenital abnormalities. Conduite à tenir en présence de difficultés respiratoires pendant l’induction de l’anesthésie générale chez un cheval miniature américain atteint de nanisme. Ce rapport décrit des anomalies jamais rapportées des voies respiratoires supérieures d’un cheval ...
A case of blind vagina in a crossbred Lusitano mare. This report describes a case of blind vagina diagnosed during a pre-breeding evaluation of a 5-year-old crossbred Lusitano mare. This mare was mated twice during the previous breeding season but remained open. Clinical evaluation revealed the existence of follicles in the ovaries and an enlarged uterus. An ultrasound examination showed that a granular free-floating fluid distended the uterus. No connection was detected between the uterus and the vagina and a presumptive diagnosis of congenital vaginal obstruction was raised. On vaginal examination it was noticed that the vagina was short in de...
Mesenchymal hamartoma of the liver in a late-term equine fetus. Mesenchymal hamartoma of the liver is a rare congenital disorder of biliary tract development. During the necropsy of a late-term equine fetus, a markedly enlarged liver of more than two times normal weight was found. Light microscopic review revealed that the normal hepatic parenchyma had been obliterated, replaced, and expanded by abnormal bile ducts surrounded by abundant, myxoid stroma. The lesion was diagnosed as a mesenchymal hamartoma. Small portions of the liver had bridging septa of fibrosis and proliferations of small-caliber abnormal bile ducts, resembling another congenital biliary...
Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature. Alobar holoprosencephaly is a rare and severe brain malformation due to early arrest in brain cleavage and rotation. Methods: We report a congenital anomalous fetus with alobar holoprosencephaly, prenatally diagnosed by two-dimensional (2D) sonography at the 40 weeks of gestation. The mother was affected by gestational diabetes mellitus and was obese (BMI > 30 kg/m(2)). 2D Ultrasound depicted the cerebral malformation, cyclopy, proboscis, cardiac defects (atrial septal defect, hypoplastic left heart, anomalous communication between right ventricle and aorta) and extremities defects. The new...
Congenital diaphragmatic eventration in a stillborn foal. A stillborn full term foal was presented at necropsy. The dilated duodenum and the dorsal and ventral left colon and cecum extended into the thoracic cavity and were encased by a thin transparent membrane originating from the diaphragm. The congenital condition was diagnosed as a developmental anomaly with diaphragmatic eventration. To the authors' knowledge, this is the first report of diaphragmatic eventration in a Thoroughbred stillborn foal.
Clinical, cytogenetic and hormonal findings in a stallion with hypospadias–a case report. This case report describes a three-year-old Friesian stallion with hypospadias. Physical examination revealed a ventrocaudal deviation of the shaft of the penis and an incomplete glans penis. The urethral opening was 4 cm in length, slit-like and had a mucous membrane covering. A short fold ran from the ventral aspect of the anus and ended with a non-pigmented hairless area of skin. A human choriongonadotropin (hCG)-stimulation test resulted in an increase in the plasma levels of estrogen sulfate and testosterone, indistinguishable from that of a normal stallion. The karyogram had a normal num...
Echocardiographic evidence of an aortico-pulmonary septal defect in a 4-day-old thoroughbred foal. We describe the echocardiographic findings in a 4-day-old thoroughbred foal with an aortico-pulmonary septal defect. The foal had labored breathing, cyanotic mucous membranes and a continuous grade 5/6 heart murmur with point of maximal intensity over the base of the heart on the right side. Echocardiographically, there was a large communication between the aorta and the pulmonary artery just dorsal to the base of the heart. The cardiac anomaly seen during the echocardiographic exam was confirmed at necropsy where a large communication between the two great vessels was observed. These findings...
Congenital stationary night blindness in a Thoroughbred and a Paso Fino. This report documents congenital stationary night blindness (CSNB) in two non-Appaloosa horse breeds (Thoroughbred and Paso Fino). History of vision impairment since birth, normal ocular structures on ophthalmic examination, and electroretinographic findings were consistent with CSNB. In one horse (Thoroughbred), a 9-year follow-up was carried out. In the Paso Fino, severe vision impairment from birth to approximately 1 year of age in both dim and bright light situations led to humane euthanasia and histopathologic confirmation of the disorder.
Echocardiographic diagnosis of transposition of the great arteries in a neonatal foal. The clinical and echocardiographic findings in a 19-h-old female foal with a ventricular septal defect, patent foramen ovale, patent ductus arteriosus, and complete transpositon of the great vessels are described. Clinical signs were suggestive of complex congenital heart disease and echocardiography of the foal allowed definitive diagnosis prior to postmortem.
Nondiarrheal disorders of the gastrointestinal tract in neonatal foals. Neonates can have a variety of gastrointestinal disorders, primary and secondary in nature. Important primary disorders include con-genital abnormalities and meconium retention. One of the most important secondary lesions is generalized ileus. Gastric ulceration can occur as a primary or secondary event. This article addresses the pathophysiology, diagnosis, and treatment of gastrointestinal problems commonly observed in neonatal foals.
Total anomalous pulmonary venous connection in a foal. An 8-day-old Arabian-Morgan cross colt underwent cardiac evaluation. The foal was tachycardic, tachypneic, exercise intolerant and had a loud right-sided heart murmur and cyanotic mucous membranes. Total anomalous pulmonary venous connection was diagnosed with echocardiography and confirmed at postmortem examination. Total anomalous pulmonary venous connection is a very rare congenital cardiac abnormality that has not been reported before in the horse.
Immunoglobulin and peripheral B-lymphocyte concentrations in Fell pony foal syndrome. Fell pony foals are affected by a congenital fatal disease that leads to profound anaemia and immunodeficiency. Previous studies comparing healthy and affected foals have shown normal T-cell populations, but a severe B-lymphopenia. Objective: To measure the levels of individual immunoglobulin subisotypes in normal and affected Fell ponies and correlate these levels with the number of peripheral B-lymphocytes. Methods: Serum levels of individual immunoglobulin subisotypes were measured by ELISA and correlated with the number of peripheral B-lymphocytes (measured by flow cytometry). Results: Aff...
Unusual vascular ring anomaly in a foal. A 2.5-month-old filly was presented with signs of esophageal obstruction. The filly was euthanized and postmortem examination revealed a vascular ring anomaly. The vascular ring anomaly was not caused by a persistent right aortic arch, which is the only vascular ring anomaly reported to occur in horses. Une pouliche de 2 1/2 mois a été présentée avec des signes d’obstruction œsophagienne. Après euthanasie, l’examen a révélé une malformation vasculaire annulaire. L’anomalie vasculaire annulaire n’était pas due à la persistance de l’arc aortique droit, seule malformation va...
Congenital cystic polypoid rectal hamartoma in a newborn foal. A neonatal foal with signs of rectal bleeding was diagnosed with an intraluminal rectal mass and intussusception on surgical exploration of the abdomen. Histologically, the mass consisted of cystic spaces lined by simple columnar epithelium with numerous goblet cells and was surrounded by thin bands of smooth muscle in a myxomatous stroma. Although the mass shared similarities with retrorectal cystic hamartoma (tailgut cyst) and juvenile polyps, described in human medicine, location and histologic findings were not entirely consistent with either condition.
Evaluation of experimental methods to induce congenital hypothyroidism in guinea pigs for use in the study of congenital hypothyroidism in horses. To develop a method to reliably induce congenital hypothyroidism in guinea pigs (Cavia porcellus) and assess similarities between the resultant developmental abnormalities and those described in horses with congenital hypothyroidism. Methods: 35 female guinea pigs and their offspring. Methods: Guinea pigs were allocated to control groups or groups treated with a low-iodine diet before and throughout gestation; an s.c. injection of 100 or 200 microCi of radioactive iodine 131 (131I) on day 40 of gestation; or 0.1% propylthiouracil (PTU) continuously in the drinking water, beginning day 3 or 40 ...
Congenital fetal rhabdomyoma in a foal. An Appaloosa filly was born with a ventral midline, approximately 8 x 12 x 15 cm subcutaneous cervical mass. The nonencapsulated mass was composed of interlacing and haphazard bundles of spindle cells on moderate to abundant loose myxomatous stroma. A moderate number of cells showed cross striations with minor nuclear variation and a low mitotic rate. Immunohistochemical staining for myoglobin, desmin, actin, vimentin, and S-100 was positive and negative for glial fibrillar antigen and keratin. Rhabdomyomas are rare benign tumors of striated muscle. Rhabdomyomas described previously in the vet...
Equine congenital papilloma: pathological findings and results of papillomavirus immunohistochemistry in five cases. Abstract Congenital cutaneous papillomas were identified in five foals. Age at diagnosis ranged from 305 days' gestation to 2 days of age. Breeds were thoroughbred (2), standard-bred (1), warmblood (1) and paint (1). Two were female, one was male and the gender of two cases was not specified. Masses were pedunculated with a roughened, wart-like (verrucous) or a smoother, cauliflower-like surface. Masses occurred as single lesions on the forelimb, lip and face, or as multiple lesions on the trunk. Histological features included relatively uniform epidermal papillary hyperplasia with variable me...
Ocular conditions of neonatal foals. A discussion of ocular conditions of foals with an emphasis on congenital and inherited disorders is presented. An understanding of the normal postnatal development of the eye and adnexae is important. Recognition of inherited abnormalities is essential when giving advice on breeding suitability, and prompt attention or referral of deteriorating ocular conditions in foals ensures the best outcome for future use. Congenital conditions may be recognized for the first time in older animals during their first thorough eye examination.
Use of distraction osteogenesis for the correction of deviated nasal septum and premaxilla in a horse. A 13-month-old female Andalusian was evaluated because of a congenital left deviation of the maxilla and nasal septum, which had resulted in a gross malocclusion of the maxillary incisor teeth. Surgical correction of a deviated nasal septum and premaxilla in a horse was first reported in 1978 and involved a pre-maxilla osteotomy and use of an autogenous rib graft, with a nasal septum osteotomy performed in a second surgery; to the authors' knowledge, no alternative surgical treatments have since been described. In this horse, a new surgical treatment by distraction osteogenesis without nasal s...