Escobar Sendromlu Bir Olguda Kaş ve Kirpik Yokluğu

Abstract

Escobar Sendromu eklem hareketlerini kısıtlayan deri katlantıları ve baş, boyun, yüz, omurga ve genital sistemi tutan konjenital anomalilerle karakterize nadir bir hastalıktır. Sıklıkla otozomal resesif kalıtım kalıbı gözlenmekle birlikte, literatürde otozomal dominant ve X’e bağlı formlar da bildirilmiştir. Genellikle doğumda tanı konulabilir.Burada, Escobar sendromunun klinik tablosu ile uyumlu bulguların yanında ek olarak kaş ve kirpik yokluğu olan bir kız hastayı sunuyoruz. Bu bulgular daha önce literatürde bildirilmemiştir.

Keywords

• Escobar sendromu, web, kaş yokluğu, kirpik yokluğu

THE ABSENT EYEBROWS AND EYELASHES IN THE CASE WITH

Abstract

Escobar Syndrome is a rare disorder characterized by multiple cutaneous webs limiting joint mobility, and congenital anomalies involving the head, neck, face, vertebrae and genitalia. Although autosomal recessive inheritance is the most common inheritance pattern, autosomal dominant and X-linked types have also been reported in literature. It is usually diagnosable at birth.We report here a female patient with absent eyebrows and eyelashes in addition to clinical picture according with Escobar syndrome. These features were not been reported in the literature before

Keywords

• Escobar syndrome, web, absent eyebrow, absent eyelash

References

1. Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, et al. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia pati- ents. Am J Hum Genet 2008;82(1):222-7.
2. Thompson EM, Donnai D, Baraitser M, Hall CM, Pembrey ME, Fixsen J. Multiple pterygium syndrome: evolution of the phenoty- pe. J Med Genet 198;24(12):733-49.
3. Hall J. Arthrogryposis and associated anomalies. In: Emery, Ri- moins (eds) Principles and practice of medical genetics, 3rd edn. Churchill Livingstone, New York, NY, 1997;2905-7.
4. Yıldırım MS, Tosun Z, Yensel U, Savacı N. Multiple pterjium- larla karakterize bir olgu: Escobar Sendromu. Genel Tıp Derg 2005;15(3):121-3.
5. Angle B, Hersh JH, Yen F, Verdi GD. XY gonadal dysgenesis asso- ciated with a multiple pterygium syndrome phenotype. Am J Med Genet 1997;68(1):7-11.
6. Goh A, Lim KW, Rajalingam V. Multiple pterygium syndrome (Es- cobar syndrome): a case report. Singapore Med J 1994;35(2):208-10.
7. Cox PM, Brueton LA, Bjelogrlic P, Pomroy P, Sewry CA. Diversity of neuromuscular pathology in lethal multiple pterygium syndro- me. Pediatr Dev Pathol 2003;6(1):59-68.
8. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, et al. Mutations in the embryonal subunit of the acetylcholine recep- tor (CHRNG) cause lethal and Escobar variants of multiple ptery- gium syndrome. Am J Hum Genet 2006;79(2):390-5.

9. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lind- ner TH, et al. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet 2006;79(2):303-12.