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Beare-Stevenson sendromu (cutis gyrata)

Kalıtsal - AD

Kraniyosinostozis grubunda

Kafatası eklemlerinde erken kapanma

Yonca yaprağı kafatası

Fırlak gözler

Maksilla hipoplazisi (mikrognati)

Dar damak

Natal dişler

Cutis gyrata

Deride acanthosis nigricans türü oluşumlar

Süpernümerer meme uçları

Kulak anomalileri

Dış gental anomaliler

Zeka geriliği

 

  • Hall BD, Cadle RG, Golabi M, et al. Beare-Stevenson cutis gyrata syndrome. American Journal of Medical Genetics, 44(1):82-89, 1992

  • Przylepa KA, Paznekas W, Zhang M, et al. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nature Genetics, 13: 492-494, 1996

  • Kress W, Collmann H, Busse M, et al. Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenetics & Cell Genetics, 91:134–137, 2000

  • Izakovic J, Leitner S, Schachner LA. What syndrome is this? Beare-Stevenson cutis gyrata syndrome. Pediatric Dermatology, 20(4):358-360, 2003

  • Eun SH, Ha KS, Je BK, et al. The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. Journal of Korean Medical Sciences, 22(2):352-356, 2007Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM. Second case of Beare–Stevenson syndrome with an FGFR2Ser372Cys mutation. American Journal of Medical Genetics A, 146A:658–660, 2008