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

A retrospective study of fifty 5-year-old children whose eyes were patched bilaterally to treat neonatal jaundice was compared with a study of a similar group of fifty 5-year-old children who were treated in the intensive care nursery but whose eyes were not patched. No difference in the incidence of strabismus or loss of stereoacuity was established in these two groups. Despite the experimental evidence documenting changes in the visual cortex and interocular alignment in animals binocularly deprived of visual stimulation near birth, the clinical practice of binocularly patching the eyes of neonates with jaundice does not seem to increase the incidence of subsequent strabismus or loss of stereoacuity.
 ...
PMID:The long-term visual effects of short-term binocular occlusion of at-risk neonates. 743 27

Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. The medical records of 42 of these 43 individuals were reviewed. In order to gain additional phenotypic data, 31 individuals with tetrasomy 18p underwent a series of clinical evaluations at the Chromosome 18 Clinical Research Center. Results from the molecular analysis indicated that 42 of 43 samples analyzed had 4 copies of the entire p arm of chromosome 18; one individual was also trisomic for a section of proximal 18q. The results of the medical records review and clinical evaluations expand the phenotypic description of tetrasomy 18p to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies. Additional findings identified in a small number of individuals include hernias, myelomeningocele, kidney defects, short stature, and failure to respond to growth hormone stimulation testing. Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested.
 ...
PMID:Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. 2080 40