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

 

• 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

• Battaglia A, Carey JC, Cederholm P, et al. Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics, 103:830–836, 1999

• Battaglia A, Carey JC, Viskochil DH, et al. Wolf-Hirschhorn syndrome (WHS): a history in pictures. Clinical Dysmorphology, 9:25–30, 2000

• Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends in Genetics, 21:188–195, 2005

• 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

• 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

• 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

• 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

• 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

• 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

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