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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
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Toriello HV. Wiedemann-Rautenstrauch syndrome. Journal of Medical Genetics, 27: 256-257, 1990
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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
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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
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Hou JW. Natural course of Natal progeroid syndrome. Pediatrics & Neonatology, 50(3):102-109, 2009
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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
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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
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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
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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
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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