Multiple pterjiumlarla karakterize bir olgu: Escobar Sendromu

Amaç: Escobar Sendromu, multiple pterjiumlarla karakterize nadir görülen bir konjenital anomalidir. Bu yazıda, Escobar Sendromlu bir hasta sunulmuş, klinik özellikleri literatür eşliğinde tartışılmıştır. Olgu: Düşük saç çizgisi, düşük kulak, boyun ve her iki aksillada pterjiumlar, el birinci parmakta ekstensör tendon hipoplazisi ve multipl eklem kontraktürleri ile başvuran 14 yaşındaki erkek hasta değerlendirildi. Sonuç: Escobar sendromunun Multipl konjenital anomalilerle seyretmesi nedeniyle teşhis ve tedavi için kliniklerin koopere olarak çalışması gereklidir.
Anahtar Kelimeler:

Ergen, Erkek, Soyağacı, Pterjium, Sendrom

A case characterized by multiple ptergium: Escobar Syndrome

Objective: Escobar syndrome is a rare congenital anomaly characterized by multiple ptergia. In this article, a patient with escobar syndrome were presented and the clinical features were discussed in the light of the literature. Case: A 14 year old male patient who had low hairline, low ear position, ptergium in his both axillae, extensor tendon hypoplasiain the first digits and multipl joint contracture was evaluated. Results: Due to the fact that Escobar syndrome is characterized by various congenital abnormalites, a multi-disciplinary approach is necessary for the diagnosis and treatment of this disease

___

  • 1. Aslani A, Kleiner U, Noah EM, Rudnik -Schöneborn S, Pallua N. Extensor tendon hypoplasia and multiple pterygia: Escobar syndrome in a 7 year old boy. Br J Plast Surg 2002; 55:516-9.
  • 2. Özkınay FF, Özkınay C, Akın H, Azarsiz S, Gunduz C. Multipl pterygium syndrome. Indian J Pediatr 1997; 64:113-6.
  • 3. Ogun TC, Tosun Z, Arazi M, Kapıcıoğlu MS. A case of a New syndrome or a variant of the rare popliteal pterygium syndrome. J Muskuloskel Res 2001; 5:73-7.
  • 4. Thompson EM, Donnai D, Baraitser M, Hall CM, Pembrey ME, Fixsen J. Multiple pterygium syndrome: Evolution of the phenotype. J Med Genet 24:733-9.
  • 5. Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM. Limb pteygium syndromes: A review and report of eleven patients. Am J Med Genet 1982;12:377-409.
  • 6. Dundar M, Demiryilmaz F, Demiryilmaz I, Kumandas S, Erkilic K, Kendirci M. An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. Clin Genet 1997;51:61-4.
  • 7. Goh A, Lim KW, Rajalingam V. Multiple pterygium syndrome (Escobar syndrome): A case report. Singapore Med J 1994;35:208-10.