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

[classical phenylketonuria]

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 .

Diseases
Validation

Diseases presenting "developmental delay" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

alpha-thalassemia

aniridia

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

gm1 gangliosidosis

harlequin ichthyosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated