Cantu sendromu (hypertrichotic osteochondrodysplasia)

Kalıtsal - AD

Makrosomi (doğumdan sonra giderek normalleşir)

Makrosefali (kafatası kemikleri kalın)

Boyun kısa

Akromegaloid yüz bulguları

Konjenital hipertrikozis

Uzun kirpikler

Filtrum uzun

Dudaklar kalın

Ağız açıklığı büyük

Gingival hiperplazi

Dar-çukur damak

Makroglossi

Kemik yaşı geride

İskelet sistemi anomalileri (kafatası kemikleri kalın, vertebra anomalileri ve skolyoz, toraks anomalileri, pelvis hipoplazisi)

Sella turcica büyük

Osteopeni

Hipotoni

Kalp anomaliler (patent ductus arteriosus, perikard effüzyonu, aorta anevrizması)

Konjenital kardiyomegali (hipertrofik kardiyomyopati)

Lenfödem

Pulmoner hipertansiyon

Zeka geriliği

 

  • 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

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 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

  • Czeschik JC, Voigt C, Goecke TO, et al. Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. American Journal of Medical Genetics, 161A:295–300, 2013 

  • Ghazi A, Khosla S, Becker K. Acromegaloid facial appearance: case report and literature review. Case Reports in Endocrinology, 2013:970396, 2013