ABSTRACT
BACKGROUND: Parapagus diprosopus are conjoined twins characterized by craniofacial duplication and only one body, representing one of the rarest types of these twins. Their occurrence has been recorded in different species of vertebrates, including humans, but few cases have been studied in domestic pigs. CASE: A pair of conjoined twin pigs was studied using x-rays, computed tomography, and necropsy. The abnormalities found were compared with those of the rare swine cases presented in the literature as well as with other species, and the different etiopathogenetic possibilities were addressed. The degree of duplication of the head bones decreased caudally, as did that of the structures of the central nervous system. In the two oral cavities, there was a complete cleft palate. All the cervical vertebrae and thoracic vertebrae up to T3 were partially duplicated. The heart and great vessels were normal, as were the other thoracic and abdominal organs. CONCLUSIONS: The conjoined twin pigs of this study are a case of parapagus diprosopus tetraophthalmus triotus, presenting the same pattern of abnormalities of human diprosopus and that of other species. The scarcity of detailed studies on craniofacial duplication in pigs and the lack of a definitive explanation on the etiology and pathogenesis of conjoined twins shows the need for further research and the publication of more cases.
Subject(s)
Cleft Palate , Twins, Conjoined , Humans , Swine , Animals , Sus scrofa , Cleft Palate/pathology , Tomography, X-Ray ComputedABSTRACT
Inborn errors of metabolism are genetic disorders caused by a block in a metabolic pathway, affecting both humans and animals. Individually, they are rare diseases, but as a group they are relatively common. As most of them have recessive inheritance, a new case may seem like just a sporadic case. The high degree of inbreeding in dog breeds increases the frequency of heterozygotes in populations, maintaining mutations (variants) in healthy individuals and, consequently, increasing the risk of disease recurrence (homozygotes). General practitioners' familiarization with this subject is a significant factor in identifying new cases, contributing to increased knowledge about inborn errors of metabolism and their control. To help general practitioners, we use a clinical genetics approach covering key genetic, metabolic, diagnostic, and therapeutic aspects, offering an overview that integrates knowledge about these diseases in dogs and humans.
Subject(s)
Dog Diseases , Metabolism, Inborn Errors , Humans , Dogs , Animals , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/genetics , Metabolism, Inborn Errors/therapy , Metabolism, Inborn Errors/veterinary , Dog Diseases/genetics , Dog Diseases/therapyABSTRACT
Hypohidrotic ectodermal dysplasias (HED) constitute a group of genetic disorders that affect ectodermal derivatives such as sweat glands, sebaceous glands, hair, and teeth. The vast majority of cases of HED are caused by a recessive mutation of the EDA gene located in the X chromosome. In these cases, affected individuals are usually male and have alopecia and hypotrichosis with characteristic distribution, in addition to malformed teeth and fewer than normal. From a canine HED isolated case (proband) andc in order to verify if this emerged from a new mutation, it was possible to construct a pedigree with 5 generations and 93 individuals representing an extended and informative family. The proband's mother crossed with 2 different males and generated 33 descendants in 9 gestations: 1 affected male (proband), 15 normal males, and 17 normal females, which together can be considered as 1 sibship. Through Bayesian inference, it was possible to establish that this case originated from a new mutation, with a 99.99% probability of the mother of the proband not being a carrier.
Subject(s)
Ectodermal Dysplasia 1, Anhidrotic/diagnosis , Genetic Predisposition to Disease , Animals , Bayes Theorem , Dogs , Ectodermal Dysplasia 1, Anhidrotic/genetics , Male , Mutation , PedigreeABSTRACT
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder characterized by abnormalities in ectodermal derivatives such as sweat glands, hair, and teeth. In animals, the highest number of cases has been reported in dogs, which show characteristic congenital alopecia and develop abnormalities in the shape and number of teeth. Although the clinical phenotype of the affected individuals is typical, this disorder remains almost unknown in veterinary clinical practice. With the aim of making it better known, we gathered in this review the main clinical and genetic aspects of XLHED, placing emphasis on dental abnormalities.
Subject(s)
Dog Diseases/genetics , Ectodermal Dysplasia 1, Anhidrotic/veterinary , Tooth Abnormalities/veterinary , Alopecia/veterinary , Animals , Dog Diseases/pathology , Dogs , Ectodermal Dysplasia 1, Anhidrotic/genetics , Female , Humans , MaleABSTRACT
This study describes a spontaneous case of Pierre Robin sequence in a nonhuman animal species. A miniature dachshund with micrognathia developed glossoptosis, respiratory distress, dysphagia, temporomandibular ankylosis, and a misaligned upper jaw. The severity of this condition resulted in death by obstructive apnea at the age of 8 mo. Dogs with Pierre Robin sequence can provide further knowledge and a greater understanding of this abnormality, leading to better management of affected individuals and improvement of therapeutic methods.
Subject(s)
Dog Diseases/congenital , Pierre Robin Syndrome/veterinary , Animals , Dog Diseases/genetics , Dog Diseases/pathology , Dogs , Fatal Outcome , Genetic Predisposition to Disease , Male , Micrognathism/genetics , Micrognathism/pathology , Micrognathism/veterinary , Pedigree , Pierre Robin Syndrome/pathologyABSTRACT
Four newborn boxer dogs with bilateral cleft lip and palate were examined in search of further abnormalities, but no other type of congenital defect was found. These data, along with the pedigree inspection regarding the clinical phenotype, led to the conclusion that the affected dogs had a nonsyndromic monogenic autosomal recessive cleft lip and palate.
Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Dog Diseases/genetics , Animals , Consanguinity , Dogs , Female , Genes, Recessive , Genetic Linkage , Male , PhenotypeABSTRACT
This paper presents the case of an adult female, red Doberman pinscher affected by permanent hypotrichosis, limited to the dorsolumbar region and sides of the trunk. The hypotrichosis began at approximately the age of 2 years and progressed slowly with no skin hyperpigmentation. The clinical and histopathological characteristics are of an uncommon form of follicular dysplasia.
Subject(s)
Dog Diseases/diagnosis , Hair Follicle/pathology , Hypotrichosis/veterinary , Animals , Diagnosis, Differential , Dogs , Female , Hypotrichosis/diagnosisABSTRACT
We describe a female domestic cat with apparent VATER/VACTERL association, including vertebral abnormalities, anal atresia, radial agenesis, and cardiovascular and renal defects. If we consider the acronym VATER, this cat had a triad (VAR); however, if we consider the extended acronym VACTERL, she had a pentad (VACRL).
Subject(s)
Abnormalities, Multiple/veterinary , Cat Diseases/genetics , Abnormalities, Multiple/genetics , Animals , Anus, Imperforate/genetics , Anus, Imperforate/veterinary , Bones of Upper Extremity/abnormalities , Cats , Female , Heart Defects, Congenital/genetics , Heart Defects, Congenital/veterinary , Humans , Kidney/abnormalities , Species Specificity , Spine/abnormalities , SyndromeABSTRACT
This review presents the clinical, dermato-histopathological and genetic features of canine X-linked ectodermal dysplasia in previously reported cases and in three new spontaneous cases. The condition is compared with anhidrotic ectodermal dysplasia in humans and, based on current genetic concepts, we suggest that the two conditions are caused by the same gene and, consequently, represent a single pathological entity that affects both humans and dogs.
