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)

An identical pattern of malformations was found in two brothers both having microcephaly and severe developmental delay. Additionally, they had hypotelorism, epicanthic folds, and convergent strabismus. There was shortening of either the radius or the tibia and shortening of the first metacarpals. Persistently dorsally flexed fingers and toes were noted, all of which are unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of 4.5 years. They both developed short stature. One brother has anal atresia; the other had a pulmonary artery atresia, VSD, ASD, and an over-riding aorta. This apparently new syndrome is possibly an autosomal, or a X-linked recessive trait.
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PMID:A novel syndrome involving primary skeletal growth and retardation in siblings. 1115 45

Evidence of atypical perception in individuals with ASD is mainly based on self report, parental questionnaires or psychophysical/cognitive paradigms. There have been relatively few attempts to establish whether binocular vision is enhanced, intact or abnormal in those with ASD. To address this, we screened visual function in 51 individuals with autistic spectrum disorder and 44 typically developing individuals by measuring visual acuity, stereoacuity, convergence, divergence, ocular motility, incidence of strabismus and integrity of the optokinetic response. The data suggest that many aspects of vision, including visual acuity, are unaffected in ASD, but that convergence is an aspect of visual function that merits further research in those with ASD.
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PMID:Vision in children and adolescents with autistic spectrum disorder: evidence for reduced convergence. 1922 51