OMIA 002136-9685 : Goldenhar syndrome in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 164210

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Berkowski et al. (2018) concluded that "The congenital abnormalities observed resembled those described for human patients with Goldenhar syndrome".

Clinical features: Berkowski et al. (2018): "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."

Breed: Domestic Shorthair.

Reference


2018 Berkowski, W., Langohr, I., Pease, A., Bartoe, J. :
Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. J Am Vet Med Assoc 252:324-329, 2018. Pubmed reference: 29346049. DOI: 10.2460/javma.252.3.324.

Edit History


  • Created by Frank Nicholas on 20 Jan 2018
  • Changed by Frank Nicholas on 20 Jan 2018