DOCTORS'
Medical Case Studies
DOCTORS'
Medical Case Studies
Bloom syndrome
Bloom syndrome
Bloom's syndrome (BLM), also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr. David Bloom in 1954.
Bloom syndrome - List of case studies
- Possible Anorexia, Vomiting, Failure to Gain Weight and Linear Growth Retardation
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FD negative • Sweat test for CF negative • Bloom negative • Russel Silver negative • Cockayne Syndrome negative • Check of many genetic disorders done in the US (see ...
- List of Diseases and Conditions
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focus Acute EBV infection Acute coronary syndrome Acute humoral rejection Acute infectious mononucleosis ... reflex Blood disorders Blood vessels damage Bloom syndrome Bone contusion Bone disease Bone erosion ...
- Feeding problems, vomiting and short stature in prematurely born child
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- negative. Sweat test for CF - negative Bloom syndrome - negative. Russel Silver syndrome - negative. Cockayne ...
- List of Examinations
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Blood tests with prolactin levels Blood work Bloom Bone Scan Bone Scintigraphy Bone age Bone biopsy ... count Coagulation functionality Cockayne Syndrome Cognitive testing Collagen disease Collection of bone ...