Z

Zimmermann-Laband sendromu

Kalıtsal - AD

3 fenotip (bulguların çoğu 1 ve 2 fenotiplerde)

Yaygın hipertrikoz

Kalın kaşlar

Katarakt

Yumuşak top gibi burun

Belirgin burun sırtı

Kalın ve geniş kulaklar

Kaba yüz yapısı

Dudaklar kalın

Prognatizm

Çukur damak

Gingival fibromatozis

Dişlerde sürme aksamaları

Makroglossi

Uvula bifida

Kardiyomyopati

Aorta anomalileri

Hepatosplenomegali

Tırnak ve parmaklarda agenez/hipoplazi

Kifoz

Hipotoni

Psikomotor gerilik

Epilepsi

Zeka geriliği

 

  • Balasubramanian M, Parker MJ. Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures (Letter). Clinical Dysmorphology, 19: 48-50, 2010

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Poulopoulos A, Kittas D, Sarigelou A. Current concepts on gingival fibromatosis-related syndromes. Journal of Investigative & Clinical Dentistry, 22(3):156-161, 2011

  • Sawaki K, Mishima K, Sato A, et al. Zimmermann- Laband syndrome: a case report. Journal of Clinical Pediatric Dentistry, 36(3):297-300, 2012

  • Castori M, Valiante M, Pascolini Get al. Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. European Journal of Medical Genetics, 56(10):570-576, 2013

  • Perks T, Popat H, Cronin AJ, et al. The orthodontic and surgical management of Zimmerman-Laband syndrome. Orthodontics (Chicago), 14(1):e168-176, 2013

  • Kortum F, Caputo V, Bauer CK, et al. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nature Genetics, 47: 661-667, 2015

  • Bauer CK, Schneeberger PE, Kortum F, et al. Gain-of-function mutations in KCNN3 encoding the small-conductance Ca(2+)-activated K+ channel SK3 cause Zimmermann-Laband syndrome. American Journal of Human Genetics, 104: 1139-1157, 2019