ABSTRACT
Hemifacial microsomia (HFM) was diagnosed in a 9-day-old Romagnola calf. The condition was characterized by microtia of the left ear, anotia of the right ear, asymmetry of the face, and deafness. Magnetic resonance imaging revealed agenesis of the right pinna and both tympanic bullae, asymmetry of the temporal bones and temporomandibular joints, and right pontine meningocele. Brainstem auditory evoked responses confirmed the impaired auditory capacity. At gross post mortem examination, there was agenesis and hypoplasia of the right and the left external ear, respectively. No histological abnormalities were detected in the inner ears. A trio whole-genome sequencing approach was carried out and identified a private homozygous missense variant in LAMB1 affecting a conserved residue (p.Arg668Cys). Genotyping of 221 Romagnola bulls revealed a carrier prevalence <2%. This represents a report of a LAMB1-related autosomal recessive inherited disorder in domestic animals and adds LAMB1 to the candidate genes for HFM.
Subject(s)
Cattle Diseases , Goldenhar Syndrome , Animals , Cattle , Cattle Diseases/genetics , Facial Asymmetry/veterinary , Goldenhar Syndrome/veterinary , Homozygote , Laminin/genetics , Male , Mutation , Mutation, MissenseABSTRACT
CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally. Moderate rightward deviation of the nasal septum and ventral nasal meatus was also evident, with no identifiable maxillary sinuses. Results of MRI of the brain were unremarkable. Abdominal ultrasonography showed an irregularly marginated left kidney and a right kidney defect suggestive of chronic renal infarction. An abnormal, well-demarcated, focally thickened region of the muscularis externa of the jejunum was also evident. TREATMENT AND OUTCOME Transpalpebral enucleation was performed bilaterally. Histologic examination of ocular tissues confirmed the corneal dermoids and microphthalmia with anterior and posterior segment dysgenesis and cataracts in both eyes. Ocular discomfort resolved after postoperative recovery, and follow-up revealed that the patient's activity level and quality of life were excellent. No clinical signs of upper respiratory, urinary, or gastrointestinal tract disease were observed during the approximately 3.5-year follow-up period. CLINICAL RELEVANCE The congenital abnormalities observed resembled those described for human patients with Goldenhar syndrome, and the outcome of treatment was favorable. This report may prompt clinicians to consider this diagnosis when evaluating young cats with similar clinical signs.
Subject(s)
Cat Diseases/diagnosis , Goldenhar Syndrome/veterinary , Animals , Cat Diseases/diagnostic imaging , Cat Diseases/surgery , Cats , Choristoma/veterinary , Corneal Diseases/veterinary , Diagnosis, Differential , Eye Enucleation/veterinary , Female , Goldenhar Syndrome/diagnosis , Goldenhar Syndrome/surgery , Growth Disorders/veterinary , Kidney/abnormalities , Kidney/diagnostic imaging , Microphthalmos/veterinary , Tomography, X-Ray ComputedABSTRACT
A 7-month-old domestic medium hair cat presented with facial asymmetry affecting the bony and soft tissue structures of the right side of the head including the maxilla, nose, eye and pinna of the ear. Additionally, neurological dysfunction of the facial and vestibulocochlear nerves on the affected side was present. A congenital malformation affecting the first and second embryologic pharyngeal arches was suspected. This is the first case of hemifacial microsomia of likely congenital origin reported in a cat.
