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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

 

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