Acromelic frontonasal dysostosis

Kalıtsal - AD

Brakisefali

Cranium bifidum (önde)

Hipertelorizm

Burun yarığı

İri burun ucu

Yarık dudak

Yarık damak

Tibia hipoplazisi

Parmak anomalileri

Ensefalosel

Beyinde malformasyonlar

Falks kalsifikasyonları

İnterhemisferik lipoma

Büyük sella turcica

Hipofiz ön lob agenezi

Epileptik ataklar

Zeka geriliği

 

• Hing AV, Syed N, Cunningham ML. Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance. American Journal of Medical Genetics, 128A: 374-382, 2004

• Kocak H, Ceylaner G. Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. Genetic Counseling, 20: 63-68, 2009

• Smith JD, Hing AV, Clarke CM, et al. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. American Journal of Human Genetics, 95: 235-240, 2014

• Twigg SRF, Ousager LB, Miller KA, et al. Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. Clinical Genetics, 90: 270-275, 2016

 

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