title: Bloom syndrome in an Indian child.
abstract: A girl presented with severely stunted growth, photosensitivity, and a characteristic facies. Cytogenetic studies were suggestive of Bloom syndrome. This disorder has not been previously documented in the literature in an Indian child. Minor variations in characteristics in this patient have been highlighted. Cytogenetically, she was found to be a low sister chromatid exchange mosaicism of Bloom syndrome.
authors.affiliation: Department of Dermatology, Venereology & Leprosy, BLDEA's SBMP Medical College, Hospital & Research Center, Bijapur, Karnataka, India. aparuna1@rediffmail.com
authors.forename: Arun C
authors.initials: AC
authors.lastname: Inamadar
authors.forename: Aparna
authors.initials: A
authors.lastname: Palit
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D001816:Bloom Syndrome / Q000150:complications / Q000473:pathology*; D002648:Child; D004423:Ear / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007194:India; D009666:Nose / Q000002:abnormalities; D010787:Photosensitivity Disorders / Q000150:complications