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 …

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 …

Goldenhar syndrome or fascio-auriculo-vertebral dysplasia or oculo-auriculo-vertebral
syndrome is a sporadic or autosomal dominant inherited genetic rare syndrome …

Clinical Manifestations of Goldenhar Syndrome Page 1 Key words: Goldenhar, Syndrome,
Limbal, Dermoid INTRODUCTION Goldenhar syndrome, first described by Dr Maurice Goldenhar …

There are two types of tyrosinemia: tyrosinemia type 1 due to fumarylacetoacetase
deficiency which is a hepatorenal form without skin abnormalities, and tyrosinemia type II or …

The Goldenhar syndrome also known as oculo-auriculo-vertebral dysplasia is one of the
rare congenital defects that usually involves the impaired development of structures derived …

Background Tyrosinemia type II, also known as Richner‐Hanhart Syndrome, is an extremely
rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic …

Association of goldenhar syndrome with trisomy 18 Page 1 Case Report Clinical Case
Reports and Reviews Clin Case Rep Rev, 2016 doi: 10.15761/CCRR.1000246 ISSN: 2059-0393 …

Tyrosinemia Type II is a rare autosomal recessive disorder that manifests itself with recurrent
epithelial keratitis, hyperkeratotic skin lesions and mental retardation. We present two …

In the present study we report the clinical features and the molecular genetic investigation of
the tyrosine aminotransferase (TAT) gene in a young girl from Croatia with Richner–Hanhart …