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
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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
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Kocak H, Ceylaner G. Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. Genetic Counseling, 20: 63-68, 2009
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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
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Twigg SRF, Ousager LB, Miller KA, et al. Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. Clinical Genetics, 90: 270-275, 2016