H

 

Hartsfield sendromu

Kalıtsal - AD

Mikrosefali

Holoprosensefali

Gelişme geriliği

Hiper ya da hipotelorizm

Kulak anomalileri

Kafa ve yüz kemiklerinde defektler

Yarık dudak (median/bilateral)

Yarık damak (median/bilateral)

Kalp anomalileri

Erkeklerde hipogonadotropik hipogonadizm

Diabetes insipidus

Parmak anomalileri: ektrodaktili, sindaktili, polidaktili

Beyinde corpus callosum agenezi

Septum pellucidum ve koku yolları yokluğu

Serebellar vermis hipoplazisi

Hipotalamus disfonksiyonu

Spastik görünüm

Epilepsi

Psikomotor gerilik

  • Vilain C, Mortier G, Van Vliet G, et al. Hartsfield holoprosencephaly-ectrodactyly syndrome in five male American Journal of Medical Genetics A, 149A(7):1476-1481, 2009

  • Keaton AA, Solomon BD, van Essen AJ, et al. Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C:170–175, 2010

  • Simonis N, Migeotte I, Lambert N, et al. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. Journal of Medical Genetics, 50:585–592, 2013

  • Oliver JD, Menapace DC, Cofer SA. Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature. International Journal of Pediatric Otorhinolaryngology, 98:4-8, 2017