Gomez-Lopez-Hernandez sendromu | cerebello-trigeminal-dermal dysplasia

Gomez-Lopez-Hernandez sendromu (cerebello-trigeminal dermal dysplasia)

Spontan

Brakisefali

Gelişme geriliği

Nörolojik bulgular yoğun

Serebellum vermisi agenezi (rhombencephalosynapsis)

Bilateral parietal alopesi

Hipertelorizm

Strabismus

Korneada opasiteler

Kulak kepçesi anomalileri

Trigeminal anestezi

Yüz hipoplazisi (orta bölüm)

Psikiyatrik bulgular

Munoz R MV, Santos AC, Graziadio C, Pina-Neto JM. Cerebello-trigeminal-dermal dysplasia (Gomez-Lopez-Hernandez syndrome): description of three new cases and review. American Journal of Medical Genetics, 72(1):34-39, 1997
Gomy I, Heck B, Santos AC, et al. Two new Brazilian patients with Gomez-Lopez-Hernandez syndrome. American Journal of Medical Genetics A,146A: 649-657, 2008
Sukhudyan B, Jaladyan V, Melikyan G, et al. Gomez-Lopez-Hernandez syndrome: reappraisal of the diagnostic criteria. European Journal of Pediatrics, 169: 1523-1528, 2010
Rush ET, Adam MP, Clark RD, et al. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. American Journal of Medical Genetics A, 161A(2):320-326, 2013
Balaban O, Tobias JD. Periopertaive care of an infant with Gomez-Lopez-Hernandez syndrome. Middle East Journal of Anaesthesiology, 23(5):581-585, 2016