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Questionable Bloom Syndrome in a Negro Girl

Questionable Bloom Syndrome in a Negro Girl Abstract The Bloom syndrome, a genodermatosis, is described here for the first time in a Negro; the patient did not manifest telangiectatic erythema, one of the cardinal features of the syndrome. Rather than postulate a new subgroup of the intrauterine growth retardation syndrome, we contend that her condition satisfies the other two major criteria of the Bloom syndrome and multiple minor criteria, including parental consanguinity and chromosomal changes. References 1. Bloom D: Congenital telangiectatic erythema in a Levi-Lorain dwarf . Arch Derm Syph 69:526, 1954. 2. Bloom D: Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs: Probably a syndrome entity . Amer J Dis Child 88:754-758, 1954. 3. German J: Bloom's syndrome: I. Genetical and clinical observations in the first 27 patients . Amer J Hum Genet 21:196-227, 1969. 4. Matsuda H: Ueber das Bloom-Syndrom . Praxis 57:1523-1527, 1968. 5. Braun-Falco O, Marghescu S: Bloom-Syndrom: Eine Krankheit mit relativ hoher Leukämie-Morbidität . Manchen Med Wschr 111:65-69, 1969. 6. Landau J, Katzenellenbogen I, Laron Z: Eye findings in congenital telangiectatic erythema and growth retardation . Amer J Ophthal 62:753-754, 1966. 7. Rauh JL, Soukup SW: Bloom's syndrome . Amer J Dis Child 116:409-413, 1968. 8. German J: Chromosomal breakage syndromes , in Bergsma D (ed): Birth Defects: Original Article Series . New York, National Foundation, 1969, vol 5, (part 5) , pp 117-131. 9. Gold AP, Freeman JM: Depigmented nevi: The earliest sign of tuberous sclerosis . Pediatrics 35:1003-1005, 1965. 10. Sugarman GI, Reed WB: Two unusual neurocutaneous disorders with facial cutaneous signs . Arch Neurol 21:242-247, 1969.Crossref 11. Hurwitz S, Braverman IM: White spots in tuberous sclerosis . J Pediat 77:587-594, 1970.Crossref 12. Bloom D: The syndrome of congenital telangiectatic erythema and stunted growth . J Pediat 68:103-113, 1966.Crossref 13. Gellis SS, Feingold M, Bloom D: Picture of the month: Bloom's syndrome . Amer J Dis Child 112:581-582, 1966. 14. Szalay GC: Dwarfism with skin manifestations . J Pediat 62:686-695, 1963.Crossref 15. Warkany J, Monroe BB, Sutherland BS: Intrauterine growth retardation . Amer J Dis Child 102:249-279, 1961. 16. Black J: Low birth weight dwarfism . Arch Dis Child 36:633-644, 1961.Crossref 17. Landau JW, Sasak MS, Newcomer VD, et al: Bloom's syndrome . Arch Derm 94:687-694, 1966.Crossref 18. Schoen EJ, Shearn MA: Immunoglobulin deficiency in Bloom's syndrome . Amer J Dis Child 113:594-596, 1967. 19. Keutel J: Cytogenetische, immunoglogsche und cytologische Familienuntersuchungen bei Bloom-Syndrom . Humangenetik 8:142-157, 1969. 20. Silver HK: Asymmetry, short stature, and variations in sexual development: A syndrome of congenital malformations . Amer J Dis Child 107:495-515, 1964.Crossref 21. Gellis SS, Feingold M, Silver HK: Picture of the month: Silver's syndrome . Amer J Dis Child 114:309-310, 1967. 22. Szalay G: Pseudohydrocephalus in dwarfs: The Russell dwarf . J Pediat 63:622-633, 1963.Crossref 23. Gellis SS, Feingold M, Patterson JH, et al: Picture of the month: Bird-headed dwarfs . Amer J Dis Child 114:583-584, 1967. 24. Dubowitz V: Familial low birthweight dwarfism with an unusual facies and a skin eruption . J Med Genet 2:12-17, 1965.Crossref 25. Ferrara A, Fontana VJ, Numsen G: Bloom's syndrome in Oriental male . New York J Med 67:3258-3262, 1967. 26. Freeman AI, Sinks LF, Cohen MM: Lymphosarcoma in siblings associated with cytogenetic abnormalities, immune deficiency and abnormal erythropoiesis . J Pediat 77:996-1003, 1970.Crossref 27. Ferrara A: Goltz's syndrome . Amer J Dis Child 123:263, 1972. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Questionable Bloom Syndrome in a Negro Girl

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References (34)

Publisher
American Medical Association
Copyright
Copyright © 1972 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1972.02110140095014
Publisher site
See Article on Publisher Site

Abstract

Abstract The Bloom syndrome, a genodermatosis, is described here for the first time in a Negro; the patient did not manifest telangiectatic erythema, one of the cardinal features of the syndrome. Rather than postulate a new subgroup of the intrauterine growth retardation syndrome, we contend that her condition satisfies the other two major criteria of the Bloom syndrome and multiple minor criteria, including parental consanguinity and chromosomal changes. References 1. Bloom D: Congenital telangiectatic erythema in a Levi-Lorain dwarf . Arch Derm Syph 69:526, 1954. 2. Bloom D: Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs: Probably a syndrome entity . Amer J Dis Child 88:754-758, 1954. 3. German J: Bloom's syndrome: I. Genetical and clinical observations in the first 27 patients . Amer J Hum Genet 21:196-227, 1969. 4. Matsuda H: Ueber das Bloom-Syndrom . Praxis 57:1523-1527, 1968. 5. Braun-Falco O, Marghescu S: Bloom-Syndrom: Eine Krankheit mit relativ hoher Leukämie-Morbidität . Manchen Med Wschr 111:65-69, 1969. 6. Landau J, Katzenellenbogen I, Laron Z: Eye findings in congenital telangiectatic erythema and growth retardation . Amer J Ophthal 62:753-754, 1966. 7. Rauh JL, Soukup SW: Bloom's syndrome . Amer J Dis Child 116:409-413, 1968. 8. German J: Chromosomal breakage syndromes , in Bergsma D (ed): Birth Defects: Original Article Series . New York, National Foundation, 1969, vol 5, (part 5) , pp 117-131. 9. Gold AP, Freeman JM: Depigmented nevi: The earliest sign of tuberous sclerosis . Pediatrics 35:1003-1005, 1965. 10. Sugarman GI, Reed WB: Two unusual neurocutaneous disorders with facial cutaneous signs . Arch Neurol 21:242-247, 1969.Crossref 11. Hurwitz S, Braverman IM: White spots in tuberous sclerosis . J Pediat 77:587-594, 1970.Crossref 12. Bloom D: The syndrome of congenital telangiectatic erythema and stunted growth . J Pediat 68:103-113, 1966.Crossref 13. Gellis SS, Feingold M, Bloom D: Picture of the month: Bloom's syndrome . Amer J Dis Child 112:581-582, 1966. 14. Szalay GC: Dwarfism with skin manifestations . J Pediat 62:686-695, 1963.Crossref 15. Warkany J, Monroe BB, Sutherland BS: Intrauterine growth retardation . Amer J Dis Child 102:249-279, 1961. 16. Black J: Low birth weight dwarfism . Arch Dis Child 36:633-644, 1961.Crossref 17. Landau JW, Sasak MS, Newcomer VD, et al: Bloom's syndrome . Arch Derm 94:687-694, 1966.Crossref 18. Schoen EJ, Shearn MA: Immunoglobulin deficiency in Bloom's syndrome . Amer J Dis Child 113:594-596, 1967. 19. Keutel J: Cytogenetische, immunoglogsche und cytologische Familienuntersuchungen bei Bloom-Syndrom . Humangenetik 8:142-157, 1969. 20. Silver HK: Asymmetry, short stature, and variations in sexual development: A syndrome of congenital malformations . Amer J Dis Child 107:495-515, 1964.Crossref 21. Gellis SS, Feingold M, Silver HK: Picture of the month: Silver's syndrome . Amer J Dis Child 114:309-310, 1967. 22. Szalay G: Pseudohydrocephalus in dwarfs: The Russell dwarf . J Pediat 63:622-633, 1963.Crossref 23. Gellis SS, Feingold M, Patterson JH, et al: Picture of the month: Bird-headed dwarfs . Amer J Dis Child 114:583-584, 1967. 24. Dubowitz V: Familial low birthweight dwarfism with an unusual facies and a skin eruption . J Med Genet 2:12-17, 1965.Crossref 25. Ferrara A, Fontana VJ, Numsen G: Bloom's syndrome in Oriental male . New York J Med 67:3258-3262, 1967. 26. Freeman AI, Sinks LF, Cohen MM: Lymphosarcoma in siblings associated with cytogenetic abnormalities, immune deficiency and abnormal erythropoiesis . J Pediat 77:996-1003, 1970.Crossref 27. Ferrara A: Goltz's syndrome . Amer J Dis Child 123:263, 1972.

Journal

American Journal of Diseases of Children – American Medical Association

Published: Aug 1, 1972

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