Lens opacities in Bloom syndrome: case report and review of the literature.
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.
Cefle
Kivanc
K
Istanbul University, Istanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Istanbul, Turkey. ceflek@istanbul.edu.tr
Ozturk
Sukru
S
Gozum
Nilufer
N
Duman
Nilgun
N
Mantar
Ferhan
F
Guler
Kerim
K
Palanduz
Sukru
S
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