Bloom sendromu

Kalıtsal - AR

2 yaşından sonra ortaya çıkar

Çok kısa boy (cücelik)

Mikrosefali

Dolikosefali

İnce-dar yüz

Kulaklar ve burun belirgin

Ses ince

Erken yaşlanma benzeri bulgular (progeria)

Yanaklar küçük (hipoplazi)

Yüzde kelebek biçiminde eritem

Dudaklarda büller

Hipodonti (üst lateral kesiciler)

Deride güneş ışınlarına duyarlılık

Hipotrikoz

Café-au-lait

Her iki cinste hipogonadizm

Sindaktili

Polidaktili

Yüksek risk: meme ca, kolon ca, lenfoma, lösemi

Yüksek risk: diabetes mellitus, KOAH

İmmunoglobulin düzeyleri düşük

Üst solunum yolları infeksiyonları

 

  • German J, Ellis N. Bloom syndrome. In: Vogelstein B, Kingler RW, eds. The Genetic Basis of Human Cancer. 2 ed. pp.267-288, McGraw-Hill, New York, 2002

  • Kaneko H, Kondo N. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Review of Molecular Diagnostics, 4(3):393-401, 2004

  • Amor-Guéret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Letters, 236(1):1-12, 2006

  • German J, Sanz MM, Ciocci S, et al. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Human Mutation, 28:743–753, 2007

  • Arora H, Chacon AH, Choudhary S, et al. Bloom syndrome. International Journal of Dermatology, 53(7):798-802, 2014

  • Quinn E, Nichols KE. Cancer predisposition syndromes associated with myeloid malignancy. Seminars in Hematology, 54(2):115-122, 2017

  • Cunniff C, Bassetti JA, Ellis NA. Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Molecular Syndromology, 8(1):4-23, 2017