Bloom Syndrome (Bloom-Torre-Mackacek Syndrome; Levi-Type Dwar 515b12f fism; Telangiectasis; Facial Dwarfism) 159
General: Autosomal recessive inheritance; male preponderance; usually low birth weight following full-term gestation; full-term, abnormally small children.
Ocular: Erythema of the lower eyelids.
Clinical: Facial rash; erythema of any part of the body; hypersensitivity to light; failure to grow; microcephaly; dolichocephaly; abnormalities of ears, extremities, digits, and nose; facial rash from sensitivity to sunlight; predisposition to neoplasia (especially leukemia) and diabetes mellitus; multiple chromosomal breaks have been observed in deoxyribonucleic acid (DNA) from these patients.
Bloom, D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am J Dis Child 1954; 88: 754-758.
German J. Bloom's syndrome: incidence, age of onset, and types of leukemia in the Bloom's syndrome registry. In: Bartsocas CS, Loukopoulos D, eds. Genetics of Hematological Disorders. Washington, DC: Hemisphere Publishers, 1992:241-258.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
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Komoto Syndrome (Congenital Eyelid Tetrad; CET) 6 [...] |
Morgagni Syndrome (Hyperostosis Frontalis Interna Syndrome; Intracranial Exostosis; Meolic Craniopathy) [...] |
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