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)

This case report describes a 23-day-old infant with significant infarct in the right middle cerebral artery territory associated with intraparenchymal hemorrhage within the infarct, subdural hygroma, and bilateral intraocular hemorrhage. The features, severity, and timing of the pathology are suggestive of Terson syndrome that has occurred during the peripartum period.
J Pediatr Ophthalmol Strabismus 2009 Nov 02
PMID:Terson Syndrome from a Significant Cerebral Infarct Occurring During the Peripartum Period. 1987 53

Sixth cranial nerve palsy is an extremely rare complication of an arachnoid cyst. A 4-year-old boy who presented with left abducens palsy and a subdural hygroma complicating arachnoid cyst is discussed. Comprehensive review of the world literature revealed only 12 additional cases.
J Pediatr Ophthalmol Strabismus 2014 Oct 01
PMID:Sixth cranial nerve palsy due to arachnoid cyst. 2534 81

Sixth cranial nerve palsy is an extremely rare complication of an arachnoid cyst. A 4-year-old boy who presented with left abducens palsy and a subdural hygroma complicating arachnoid cyst is discussed. Comprehensive review of the world literature revealed only 12 additional cases.
J Pediatr Ophthalmol Strabismus 2014 Oct 01
PMID:Sixth cranial nerve palsy due to arachnoid cyst. 2560 27

Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.
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PMID:Baraitser and Winter syndrome with growth hormone deficiency. 2562 31