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