title: Lens opacities in Bloom syndrome: case report and review of the literature.
abstract: Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop various malignancies. The greatly increased frequency of sister chromatid exchanges (reciprocal exchange of homologous segments between the two sister chromatids of a chromosome) is regarded as pathognomonic for BS. We describe an 18-year old girl who presented with short stature. She was diagnosed with BS based on an extremely increased frequency of sister chromatid exchanges. Ophthalmological examination revealed mild lens opacities bilaterally, which, to our knowledge, has not been previously reported to be associated with BS.
authors: Istanbul University, Istanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Istanbul, Turkey. ceflek@istanbul.edu.tr
authors: Kivanc
authors: K
authors: Cefle
authors: Sukru
authors: S
authors: Ozturk
authors: Nilufer
authors: N
authors: Gozum
authors: Nilgun
authors: N
authors: Duman
authors: Ferhan
authors: F
authors: Mantar
authors: Kerim
authors: K
authors: Guler
authors: Sukru
authors: S
authors: Palanduz
mesh_terms: D000293:Adolescent; D001816:Bloom Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D001827:Body Height; D002386:Cataract / Q000209:etiology*; D019066:Facies; D005260:Female; D006801:Humans; D012854:Sister Chromatid Exchange