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Kenny-Caffey sendromu

Kalıtsal (2 fenotipi var): tip 1 AR; tip 2 AD

Ortak bulgular:

Gelişme geriliği

Kemik yaşı geride

Hipoparatiroidizm

Tetaniler

Kısa köklü dişler

Mikrodonti

Hipodonti

Oligodonti

Yaygın çürükler

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Kenny-Caffey sendromu Tip 1 (otosomal resessif tip)

Yanaklar geniş

Tüm kemikler ve korteksleri ince

Kafatası kemiklerinde kalsifikasyon bozuklukları

Anemi

Yineleyen bakteri infeksiyonları

 

Kenny-Caffey sendromu Tip 2 (otosomal dominant tip)

Makrosefali

Göz bulguları (mikroftalmi, kornea ve retina kalsifikasyonları)

Dentisyonda aksamalar

Uzun kemiklerin korteksleri kalın

Beyin bazal gangliyonlarında kalsifikasyon

Paratiroid bezlerin agenezi

 

  • Abdel-Al YK, Auger LT, el-Gharbawy F. Kenny-Caffey syndrome. Case report and literature review. Clinical Pediatrics (Philadelphia), 28(4):175-179, 1989

  • Franceschini P, Testa A, Bogetti G, et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. . American Journal of Medical Genetics, 42: 112-116, 1992

  • Diaz GA, Khan KTS, Gelb BD. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. Genomics, 54: 13-18, 1998

  • Sabry MA, Farag TI, Shaltout AA, et al. Kenny-Caffey syndrome: an Arab variant? Clinical Genetics, 55(1):44-49, 1999

  • Parvari R, Hershkovitz E, Grossman N, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature Genetics, 32: 448-452, 2002

  • Courtens W, Wuyts W, Poot M, et al. Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. American Journal of Medical Genetics A, 140(6):611-617, 2006

  • Moussaid Y, Griffiths D, Richard B, et al. Oral manifestations of patients with Kenny-Caffey Syndrome. European Journal of Medical Genetics, 55(8-9):441-445, 2012

  • Unger S, Gorna MW, Le Bechec A, et al. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. American Journal of Human Genetics, 92: 990-995, 2013

  • Isojima T, Doi K, Mitsui J, et al. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. Journal of Bone & Mineral Research, 29(4):992-998, 2014

 

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