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)

A premature infant was born with congenital anomalies suggestive of trisomy 13, confirmed by karyotype analysis. Pathologic examination of the eyes revealed typical features of trisomy 13, including microphthalmos, extensive colobomata, and retinal dysplasia. A heterotopic ciliary body had also developed in the posterior segment of the left eye in the region of the posterior coloboma. The development of a well-formed ciliary body in the posterior segment of the eye questions the hypothesis that physical contact between the lens primordium and neuroepithelium is required for ciliary body development.
J Pediatr Ophthalmol Strabismus
PMID:Heterotopic ciliary epithelial differentiation in a patient with trisomy 13. 201 54

The ocular pathology in a new patient with mosaic trisomy 9 comprised major anomalies and contrasted sharply with the findings in a previous case reported by us. The ocular changes in this case were, in essence, indistinguishable from those encountered in the most severe form of trisomy 13. Similarities to trisomy 18 and 21 were further evidence of the overlap of ocular findings in autosomal trisomies. There is increasing evidence that most, if not all, chromosomes have some role in regulating ocular embryogenesis.
J Pediatr Ophthalmol Strabismus
PMID:Further observations of ocular pathology in trisomy 9. 249 1

We report on a newborn baby with partial trisomy 13 who presented with multiple dysmorphic features and hyperinsulinaemic hypoglycaemia. Cytogenetic study on peripheral blood lymphocytes showed 47,XY,+mar in all cells analysed; fluorescent in situ hybridisation showed that the marker was solely derived from chromosome 13. The final karyotype was 47,XY,+del(13)(q14q32). Milk formula through a nasogastric drip and intravenous glucose infusion were given to prevent further hypoglycaemia. However, the baby developed occasional episodes of hypoglycaemia during bolus feeding. Hence, diazoxide was given, at a dosage of 10 mg/kg per day from day 24. Thereafter, no hypoglycaemic episodes were detected. Subsequent follow-up revealed satisfactory growth, global developmental delay, and left divergent squint.
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PMID:A case of partial trisomy 13 presenting with hyperinsulinaemic hypoglycaemia. 1453 May 35

Ocular abnormalities are common in Patau syndrome (trisomy 13), but only a few cases with congenital glaucoma have been reported, some of which were associated with other ocular defects. This report describes a case of primary congenital glaucoma in an 11-year-old patient with full trisomy 13.
J Pediatr Ophthalmol Strabismus 2010 Jun 23
PMID:Primary congenital glaucoma associated with Patau syndrome with long survival. 2108 Jun 18