P

 

Perlman sendromu

Kalıtsal - AR

Doğumda boy uzun ve kilolu (makrosomi)

Artmış amnion sıvısı (polihidramnios)

İlk aylarda yüksek mortalite

Makrosefali

Kubbemsi alın

Kulaklar aşağıda

Hipertelorizm

Gözler çukurda

Geniş-basık burun sırtı

Üst dudak malformasyonları

Böbrek anomalileri (displazi, nefroblastomatozis)

Organomegali (karaciğer, böbrek, dalak, kalp, pankreas)

İnmemiş testis

Güçlü hipotoni

Parmak anomalileri (polidaktili)

Epilepsi

İlk aylarda yüksek mortalite

Wilms tümörü riski

 

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  • Greenberg F, Stein F, Gresik MV, et al. The Perlman familial nephroblastomatosis syndrome. American Journal of Medical Genetics, 24(1): 101–110, 1986

  • Henneveld HT, van Lingen RA, Hamel BC, et al. Perlman syndrome: four additional cases and review. American Journal of Medical Genetics, 86(5):439–446, 1999

  • Cohen MM, Neri G, Weksberg R. Overgrowth Syndromes. Oxford University Press, New York, 2002

  • Cohen MM Jr. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 117C(1):49–56, 2003

  • Lapunzina P. Risk of tumorigenesis in Overgrowth Syndromes: A comprehensive review. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 137C:53–71, 2005

  • Alessandri JL, Cuillier F, Ramful D, et al. Perlman syndrome: report, prenatal findings and review. American Journal of Medical Genetics A, 146A(19): 2532–2537, 2008

  • Astuti D, Morris MR, Cooper WN, et al. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nature Genetics, 44(3):277–284, 2012

  • Morris MR, Astuti D, Maher ER. Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163C(2):106–113, 2013

  • Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015