Bloom's syndrome in a 12-year-old Iranian girl

Naeimeh Tayebi,Hossain Khodaei

doi:10.4103/0971-6866.45003

Abstract

BACKGROUND:Bloom's syndrome, an autosomal recessive inherited disorder, belongs to the group of chromosomal breakage syndromes. The clinical diagnosis of BS is confirmed cytogenetically. Its frequency in the general population is unknown but it is common in eastern European Ashkenazi Jews.CASE REPORT:A 12-year-old girl was referred to us because of short stature. She was the second child of the first cousin marriage. She had a slender body frame, short stature, and microcephaly. Her face was long and narrow with prominent nose, and malar and mandibular hypoplasia. The spots of hyper and hypo pigmentation were observed in the trunk and limbs. Telangectasia spots were observed in some areas of the trunk. Additionally, generalized hirsutism was present in the whole body. Cytogenetic findings revealed an abnormality in the structural chromosome.CONCLUSION:This is the first BS case that has been reported in Iranian female population.

Highlights

Bloom’s syndrome (BS), known as congenital telangiectatic erythema, was first described by Dr David Bloom, a dermatologist, in 1954.[1]BS is an autosomal recessive inherited disorder caused by mutation in the BLM gene that is located on chromosome 15
BS is a very rare disease and its frequency in the general population is unknown, but it is common in eastern European Ashkenazi Jews with a prevalence rate of approximately 1 in 48000 persons
BS is a rare human autosomal recessive disorder belonging to a group of chromosomal breakage syndromes

Summary

BACKGROUND

Bloom’s syndrome, an autosomal recessive inherited disorder, belongs to the group of chromosomal breakage syndromes. The clinical diagnosis of BS is confirmed cytogenetically. CASE REPORT: A 12-year-old girl was referred to us because of short stature. She was the second child of the first cousin marriage. She had a slender body frame, short stature, and microcephaly. Her face was long and narrow with prominent nose, and malar and mandibular hypoplasia. The spots of hyper and hypo pigmentation were observed in the trunk and limbs. Telangectasia spots were observed in some areas of the trunk. Cytogenetic findings revealed an abnormality in the structural chromosome. CONCLUSION: This is the first BS case that has been reported in Iranian female population

Introduction

Findings

Discussion