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Miller-Dieker Lissencephaly sendromu

Kalıtsal - AD

Mikrosefali

Lissensefali

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

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