Goldenhar syndrome and hereditary tyrosinemia type 1

Authors

• Moeen A. Al-Sayed, Department of Medical Genetics (MBC 58), King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh, 11211, Kingdom of Saudi Arabia. Tel. +966 (1) 4427763. Fax. +966 (1) 4427784. E-mail: moeen{at}kfshrc.edu.sa/alsayed_moeen{at}hotmail.com.
• Ali M. Asmari, Department of Pediatrics, Suleimaniah Children's Hospital, Riyadh, Kingdom of Saudi Arabia.
• Mohammed S. Rashed, Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.

Abstract

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.

Article Type

Case Report

First Page

1527

Last Page

1531

Recommended Citation

Al-Sayed, Moeen A.; Asmari, Ali M.; and Rashed, Mohammed S. (2002) "Goldenhar syndrome and hereditary tyrosinemia type 1," Saudi Medical Journal: Vol. 23: Iss. 12, Article 20.
DOI: https://doi.org/10.15537/1658-3175.1916