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1.
J Am Anim Hosp Assoc ; 51(5): 352-7, 2015.
Article in English | MEDLINE | ID: mdl-26355589

ABSTRACT

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/pathology
2.
Cleft Palate Craniofac J ; 49(6): 759-60, 2012 Nov.
Article in English | MEDLINE | ID: mdl-21806339

ABSTRACT

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 , Phenotype
3.
J Am Anim Hosp Assoc ; 46(2): 143-7, 2010.
Article in English | MEDLINE | ID: mdl-20194372

ABSTRACT

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/diagnosis
4.
Am J Med Genet A ; 152A(3): 777-80, 2010 Mar.
Article in English | MEDLINE | ID: mdl-20186795

ABSTRACT

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 , Syndrome
5.
Vet Dermatol ; 15(5): 269-77, 2004 Oct.
Article in English | MEDLINE | ID: mdl-15500478

ABSTRACT

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.


Subject(s)
Dog Diseases/diagnosis , Dog Diseases/genetics , Ectodermal Dysplasia/veterinary , X Chromosome , Animals , Diagnosis, Differential , Dogs , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Genetic Linkage , Male , Pedigree
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