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Frontofasiyonazal displazi

Frontofacionasal dysplasia

Kalıtsal - AR

Brakisefali

Ensefalosel

Prefrontal lipoma

Göz bulguları (çok sayıda)

Yüz hipoplazisi (orta bölüm)

Yanaklar dolgun

Filtrum uzun

Yarık burun

Yarık dudak

Yarık damak

Uvula bifida

 

• Gollop TR, Kiota MM, Martins RMM, et al. Frontofacionasal dysplasia: evidence for autosomal recessive inheritance. American Journal of Medical Genetics, 19: 301-305, 1984

• White EW, Figueroa R, Flannery DB. Frontofacionasal dysplasia. American Journal of Medical Genetics, 40: 338-340, 1991

• Reardon W, Winter RM, Taylor D, Baraitser M. Frontofacionasal dysplasia: a new case and review of the phenotype. Clinical Dysmorphology, 3: 70-74, 1994

• Suthers, G., David, D., Clark, B. Fronto-facio-nasal dysplasia. Clinical Dysmorphology, 6: 245-249, 1997

• Özkınay F, Cogulu O, Akil I, et al. Fronto-facio-nasal dysplasia in two sisters with additional findings. Acta Paediatrica, 89: 1145-1147, 2000

 

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