Goldenhar syndrome and hereditary tyrosinemia type 1.
We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 (HTT1), to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cyclohexanedione in the treatment of HTT1.
Al-Sayed
Moeen A
MA
Department of Medical Genetics (MBC 58), King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh, 11211, Kingdom of Saudi Arabia. moeen@kfshrc.edu.sa
Asmari
Ali M
AM
Rashed
Mohammed S
MS
D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007223:Infant; D020176:Tyrosinemias / Q000150:complications* / Q000175:diagnosis / Q000628:therapy