CLASSICAL PHENYLKETONURIA ASSOCIATED WITH GOLDENHARS-SYNDROME - A CASE-REPORT

Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnose d in a six-month-old male infant who was referred to Hacettepe Childre n's Hospital for evaluation of developmental delay. There had been epi bulbar dermoids in his left eye, strabismus, bilateral multiple preaur icular appendices, malar hypoplasia, micrognathia, hemifacial microsom a and high palatal vault. In addition to congenital anomalies and deve lopmental delay, blond hair, fair skin and unusual urinary odor were n oted. Ferric chloride test on his urine sample was positive, and the p lasma phenylalanine level was high (34 mg/dl). Based on these clinical and biochemical findings, the diagnoses of phenylketonuria and Golden har's syndrome were made. To our knowledge, this is the first case wit h PKU and Goldenhar's syndrome.