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 (kalın-kıvrımlı kafa derisi)

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