Miller-Dieker Lissencephaly sendromu
Kalıtsal - AD
Kırışık alın derisi
Aşağı-arka yönde yerleşmiş kulaklar
Katarakt
Gözler çekik
Burun küçük
Mikrognati
Belirgin alt dudak
Üst dudak vermilionu ince
Yarık damak
Dişlerde sürme aksamaları
Konjenital kalp defektleri
Aspirasyon pnömonisi
Duodenum atrezisi
İnguinal herni
İnmemiş testis
Kistik böbrekler
Pelvik böbrek
Parmak anomalileri
Beyinde yapısal anomaliler
Beyinde orta çizgide kalsifikasyonlar
Hipotoni/hipertoni
Zeka geriliği
Progressif spastik parapleji
Epileptik ataklar
-
Schinzel A. Microdeletion syndromes, balanced translocations, and gene mapping. Journal of Medical Genetics, 25: 454-462, 1988
-
Allanson JE, Ledbetter DH, Dobyns WB. Classical lissencephaly syndromes: does the face reflect the brain? Journal of Medical Genetics, 35: 920-923, 1998
-
Toyo-oka K, Shionoya A, Gambello MJ, et al. 14-3-3-epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nature Genetics, 34: 274-285, 2003
-
Cardoso C, Leventer RJ, Ward HL, et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. American Journal of Human Genetics, 72: 918-930, 2003
-
Nagamani SCS, Zhang F, Shchelochkov OA, et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. Journal of Medical Genetics, 46: 825-833, 2009