F

 

Filippi sendromu

Kalıtsal - AR

Gelişme geriliği

Mikrosefali

Kıllı alın derisi

Ptozis

Optik atrofi

Dudaklar ince

Çizgi gibi ağız

Mikrodonti

Dişlerde biçim anomalileri

Ventriküler septum defekti

Sindaktili

Beyin malformasyonları

Araknoid kisti

Epilepsi

Zeka geriliği

 

  • Toriello HV,  Higgins JV. Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. American Journal of Medical Genetics, 55: 200-204, 1995

  • Schorderet DF, Addor M.-C, Maeder P, et al. Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation. Genetic Counselling, 13: 441-447, 2002

  • Sharif S, Donnai D. Filippi syndrome: two cases with ectodermal features, expanding the phenotype. Clinical Dysmorphology, 13: 221-226, 2004

  • Milani D, D'Arrigo S, Erbetta A, et al. Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case. Journal of Child Neurology, 22: 883-886, 2007