Bloom syndrome in an Indian child.
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.
Inamadar
Arun C
AC
Department of Dermatology, Venereology & Leprosy, BLDEA's SBMP Medical College, Hospital & Research Center, Bijapur, Karnataka, India. aparuna1@rediffmail.com
Palit
Aparna
A
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