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Ophthalmic Genet ; 26(4): 181-3, 2005 Dec.
Article in English | MEDLINE | ID: mdl-16352479

ABSTRACT

PURPOSE: To report a case of Kabuki make-up syndrome (KMS) or Niikawa-Kuroki syndrome with Coats-type retinal telangiectasia, which has not been previously reported. METHODS: Observational case report. CONCLUSIONS: There have been only two reports of retinal pigmentation abnormalities and a single case of bilateral macular deposits in KMS, but this is the first report of a Coats type retinal telangiectasia. This case highlights the importance of thorough posterior segment examination in cases of KMS.


Subject(s)
Abnormalities, Multiple/genetics , Face/abnormalities , Growth Disorders/genetics , Intellectual Disability/genetics , Retinal Diseases/genetics , Retinal Vessels/pathology , Telangiectasis/genetics , Diseases in Twins/genetics , Humans , Infant , Laser Coagulation , Male , Retinal Diseases/surgery , Retinal Vessels/surgery , Syndrome , Telangiectasis/surgery , Twins, Monozygotic/genetics
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