K

 

Keppen-Lubinsky sendromu

Kalıtsal – AD

Gelişme geriliği

Mikrosefali

Yüzde yaşlı görünümü (progeroid yapı)

Makse yüz

Gözler iri

Burun hipoplastik

Filtrum kısa

Mikrognati

Çukur damak

Eklemlerde kontraktür

Skolyoz

Deri kırışık

Yaygın lipodistrofi

Psikomotor gerilik

Zeka geriliği

Spastik tetraparezi

Hipertoni

Hiperrefleksi

  • De Brasi D, Brunetti-Pierri N, Di Micco P, et al. New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski (sic) syndrome? (Letter) American Journal of Medical Genetics, 117A: 194-195, 2003

  • Basel-Vanagaite L, Shaffer L, Chitayat D. Keppen-Lubinsky syndrome: expanding the phenotype. (Letter) American Journal of Medical Genetics, 149A: 1827-1829, 2009

  • Masotti A, Uva P, Davis-Keppen L, et al. Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. American Journal of Human Genetics, 96: 295-300, 2015

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