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Cardiofaciocutaneous (CFC) sendrom

Kalıtsal - AD

Çoğu bebek premature

Alın bombesi yüksek (görece makrosefali)

Bitemporal basıklık

Hipertelorizm

Epikantus

Ptosis

Strabismus

Nistagmus

Epikantus

Görme kusurları

Kısa-basık burun

Kulaklar aşağıda

İşitme sorunları

Kaba yüz yapısı

Filtrum uzun-derin

Çıkıntılı üst dudak ucu

Mikrognati (hafif)

Çukur damak

Yarık damak (submukozal)

Maloklüzyon

Kalp anomalileri (pulmoner stenoz, atrial ve ventriküler septum defektleri, hipertrofik kardiyomyopati, kapak anomalileri)

Hidronefroz

Deri bulguları (kuruluk, hiperkeratoz alanları, iktiyozis, ekzema, hemangiomalar, café-au-lait pigmentasyonu)

Saçlar seyrek- kıvırcık ve kırılgan

Beyin anomalileri

Epilepsi

Akut lenfositik lösemi riski (erişkin yaşlarda)

 

• Grange DK, Lorch SM, Cole PL, Singh GK. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. American Journal of Medical Genetics A, 140(15):1673-1680, 2006

• Scurr I, Wilson L, Lees M, et al. Cantu syndrome: report of nine new cases and expansion of the clinical phenotype. American Journal of Medical Genetics A, 155A(3):508-518, 2011

• van Bon BW, Gilissen C, Grange DK, et al. Cantu syndrome is caused by mutations in ABCC9 American Journal of Human Genetics 90:1094–1101, 2012

• Abe Y, Aoki Y, Kuriyama S, et al. Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. American Journal of Medical Genetics, A. 158A:1083–1094, 2012

• Goodwin AF, Oberoi S, Landan M, et al. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis. Clinical Genetics, 83: 539-544, 2013

• Pierpont ME, Magoulas PL, Adi S, et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics, 134:e1149–1162, 2014