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Classical phenylketonuria associated with Goldenhar's syndrome. A case report
A Tokatli1, T Coşkun, C N Kocabaş
1Department of Pediatrics, Hecettepe University Faculty of Medicine, Ankara.
The Turkish Journal of Pediatrics
|April 1, 1994
Summary
This report details the first documented case of a male infant diagnosed with both classical phenylketonuria (PKU) and Goldenhar syndrome. The infant presented with developmental delay and multiple congenital anomalies, alongside biochemical evidence of PKU.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Clinical Dysmorphology
Background:
- Classical phenylketonuria (PKU) is an inherited metabolic disorder.
- Goldenhar syndrome, also known as hemifacial microsomia, is a congenital disorder affecting facial development.
Observation:
- A six-month-old male infant presented with developmental delay.
- Clinical features included epibulbar dermoids, strabismus, preauricular appendices, malar hypoplasia, micrognathia, hemifacial microsoma, and a high palatal vault.
- Additional findings were blond hair, fair skin, and an unusual urinary odor.
Findings:
- Urine ferric chloride test was positive.
- Plasma phenylalanine levels were significantly elevated at 34 mg/dl.
- The infant was diagnosed with both classical phenylketonuria and Goldenhar syndrome.
Implications:
- This case represents the first known co-occurrence of PKU and Goldenhar syndrome.
- Highlights the importance of comprehensive evaluation in infants with developmental delay and congenital anomalies.
- Suggests potential shared etiological factors or diagnostic challenges in syndromic presentations.