Classical phenylketonuria associated with Goldenhar's syndrome. A case report.

Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay. There had been epibulbar dermoids in his left eye, strabismus, bilateral multiple preauricular appendices, malar hypoplasia, micrognathia, hemifacial microsoma and high palatal vault. In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. Ferric chloride test on his urine sample was positive, and the plasma phenylalanine level was high (34 mg/dl). Based on these clinical and biochemical findings, the diagnoses of phenylketonuria and Goldenhar's syndrome were made. To our knowledge, this is the first case with PKU and Goldenhar's syndrome.