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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.  相似文献   

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K A Papp  R M Curtis 《CMAJ》1984,131(9):1081-1084
A 14-year-old girl presented with hallucinations and bizarre behaviour 3 days following the institution of cimetidine therapy for acute gastritis. She had no history of drug abuse or psychiatric disorders, and physical examination and laboratory investigations yielded no abnormalities. Within 24 hours after cimetidine therapy was discontinued her behaviour returned to normal and the hallucinations stopped.  相似文献   

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S Sheps 《CMAJ》1984,131(12):1467-1468
Pertussis, though uncommon in people older than 9 years, does occur (in girls and women primarily) and should be considered in the differential diagnosis of persistent cough. Earlier this year in British Columbia a 12-year-old girl contracted the disease, even though she had been fully vaccinated against it at the appropriate ages. The source of her infection was unknown. The clinical picture was classic except that the girl experienced intense headaches, lasting up to an hour, after the episodes of paroxysmal coughing. Canadian physicians and public health practitioners should encourage vaccination against pertussis.  相似文献   

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