Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Classical phenylketonuria associated with Goldenhar's syndrome. A case report. 801 17

This is a report of a five-year-old girl with phenylketonuria (PKU) and hereditary fructose intolerance (HFI) who underwent elective strabismus surgery. PKU and HFI are two inborn errors of metabolism which have an autosomal recessive mode of inheritance. This case report describes the anesthetic features of a patient with PKU and HFI, each defect requiring specific anesthetic management.
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PMID:Anesthetic management of a patient with hereditary fructose intolerance and phenylketonuria. 824 92

Screening of the newborn begins in the case room with a search for gross congenital anomalies. Early detection of such anomalies may help to prevent serious consequences. Problems include spina bifida, cleft palate, orthopedic abnormalities, congenital heart disease, imperforate anus, and esophageal atresia. In the hospital nursery, tests for phenylketonuria, hypothyroidism, hearing impairment, strabismus, and congenital hip dislocation are performed. Studies indicate that five to six well-baby visits in the first two years of life provide adequate screening of healthy infants from intact homes. During well-baby visits the physician should monitor rate of growth and risk of child abuse, and take steps to prevent childhood injuries. Appropriate screening for these conditions in every Canadian child will improve the health of the population.
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PMID:Preventive Health Examinations Part II. 2125 75