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Wiedemann-Rautenstrauch sendromu (progeroid sendrom)

Kalıtsal - AR

Doğumda yaşlı yüz yapısı

Gelişme geriliği

Hipertelorizm

Gagamsı burun

Kulak kepçesi anomalileri

Yüz üçgen biçiminde

Yüz hipoplazisi

Yüz küçüklüğü nedeniyle makrosefal izlenimi

Mikrognati

Ağız küçük

Natal dişler (kesici)

Gömük dişler

Yüksek hormon düzeyleri

Jinekomasti

Erkeklerde genital anomaliler

İskelet sistemi anomalileri

Hipotoni

Tremor

Ataksi

Zeka geriliği

Bkz Hutchinson-Gilford progeria sendromu

  • Toriello HV. Wiedemann-Rautenstrauch syndrome. Journal of Medical Genetics, 27: 256-257, 1990

  • O'Neill B, Simha V, Kotha V, Garg A. Body fat distribution and metabolic variables in patients with Natal progeroid syndrome. American Journal of Medical Genetics A, 143A: 1421-1430, 2007

  • Arboleda G, Ramírez N, Arboleda H. The Natal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? Experimental Gerontology, 42(10):939-943, 2007

  • Hou JW. Natural course of Natal progeroid syndrome. Pediatrics & Neonatology, 50(3):102-109, 2009

  • Arboleda G, Morales LC, Quintero L, Arboleda H. Natal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. American Journal of Medical Genetics A, 155A(7):1712-1715, 2011

  • Kiraz A, Özen S, Tubas F, et al. Wiedemann-Rautenstrauch syndrome: report of a variant case. American Journal of Medical Genetics A, 158A: 1434-1436, 2012

  • Lessel D, Özel AB, Campbell SE, et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Human Genetics, 137: 921-939, 2018

  • Paolacci S, Li Y, Agolini E, et al. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. Journal of Medical Genetics, 55: 837-846, 2018

  • Wambach JA, Wegner DJ, Patni N, et al. Bi-allelic POLR3A loss-of-function variants cause autosomal-recessive Wiedemann-Rautenstrauch syndrome. American Journal of Human Genetics, 103: 968-975, 2018