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)

At 7 months of age, an infant with Lowe's oculocerebrorenal syndrome developed an epimacular membrane after three intraocular surgeries in the right eye. Serial fundus photographs document the membrane's appearance 6 months after lensectomy/vitrectomy for a dense cataract and 2 months after the second trabeculotomy for congenital glaucoma. Epimacular membranes are a vitreoretinal disorder found almost exclusively in adults. To the best of our knowledge, this is the first documented case of acquired preretinal macular membrane in an infant and the youngest case reported in the literature. The loss of formed vitreous and repeated deposition of blood products into the vitreous cavity may be responsible for the development of this preretinal membrane.
J Pediatr Ophthalmol Strabismus
PMID:Acquired epimacular membrane after multiple intraocular procedures in an infant. 341 24

The combination of multiple exostoses (EXT) and enlarged parietal foramina (foramina parietalia permagna, FPP) represent the main features of the proximal 11p deletion syndrome (P11pDS), a contiguous gene syndrome (MIM 601224) caused by an interstitial deletion on the short arm of chromosome 11. Here we present clinical aspects of two new P11pDS patients and the clinical follow-up of one patient reported in the original paper describing this syndrome. Recognised clinical signs include EXT, FPP, mental retardation, facial asymmetry, asymmetric calcification of coronary sutures, defective vision (severe myopia, nystagmus, strabismus), skeletal anomalies (small hands and feet, tapering fingers), heart defect, and anal stenosis. In addition fluorescence in situ hybridisation and molecular analysis were performed to gain further insight in potential candidate genes involved in P11pDS.
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PMID:Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. 1487