Wolf-Hirschhorn sendromu
4p16.3 deletion sendromu
Pitt-Rogers-Danks sendromu
Oculo-oto-facial dysplasia
Spontan
Mikrosefali
Asimetrik kranyum
Boyun kısa
Alınla kaynaşan geniş burun sırtı
Oksiput derisinde orta çizgi defektleri
Yüksek kaş çıkıntıları
Glabella belirgin
Alında hemangiom
Hipertelorizm
Gözde Rieger anomalisi
Nistagmus
Koloboma
Ptozis
Strabismus
Nazolakrimal kanal atrezisi
Gagamsı burun
Oronazal fistül
Kulak anomalileri
İşitme sorunları
Filtrum kısa
Mikrostomi
Kommisuralar aşağı dönük
Dudaklar ince (bazı hastalarda üst dudak)
Kalın alt dudak (bazı hastalarda)
Mikrognati
Yarık dudak
Yarık damak
Uvula bifida
Diş sürmelerinde aksamalar
Hipodonti
Kürek biçimin dişler
Konjenital kalp defektleri
IgA eksikliği
Solunum yolları ve kulak infeksiyonları
Safra kesesi agenezi
Uterus agenezi
İnmemiş testis
Erken puberte
Üretra anomalileri
Kifoz
Skolyoz
Beyinde corpus callosum ve ventrikül anomalileri
Psikomotor yetersizlik
Alt ekstremitelerde belirgin hipotoni
Epilepsi
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Wright TJ, Clemens M, Quarrell O, Altherr MR. Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions. American Journal of Medical Genetics, 75:345-350, 1998
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Battaglia A, Carey JC, Cederholm P, et al. Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics, 103:830–836, 1999
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Battaglia A, Carey JC, Viskochil DH, et al. Wolf-Hirschhorn syndrome (WHS): a history in pictures. Clinical Dysmorphology, 9:25–30, 2000
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Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends in Genetics, 21:188–195, 2005
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Hing AV, Leblond C, Sze RW, et al. A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. American Journal of Medical Genetics A, 140:804–812, 2006
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Wieczorek D, Gillessen-Kaesbach G. Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. (Letter). American Journal of Medical Genetics A, 140A: 2381-2382, 2006
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Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 148C:246–251, 2008
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Zollino M, Murdolo M, Marangi G, et al. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 148C:257–269, 2008
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Wieczorek D, Newman WG, Wieland T, et al. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. American Journal of Human Genetics, 95:698–707, 2014
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Battaglia A, Carey JC, South ST. Wolf-Hirschhorn syndrome: A review and update. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 169(3):216-223, 2015