A Newborn Pierre Robin Syndrome Case

Abstract

Pierre robin sydrome was first reported by Pierre Robin as a triad of mikrognatia, cleft palate, glossopitosis in 1920. It is known that the patient with syndrome have increased risk of a congenital cardiac defects. In this report, we describe a male newborn with cleft palate, mikrognatia glossopitosis and perimembranous ventricular septal defect. Prenatal diagnosis of this syndrome is very difficult. However, postnatal diagnosis can be made simply with a careful physical examination and patients can be scanned with suitable tecnics for anomalies. ©2007, Firat University, Medical Faculty

Keywords

• -

Bir Yenidoğan Pierre Robin Sendromu Olgusu

Abstract

Pierre Robin sendromu, ilk kez 1920 yılında Pierre Robin tarafından mikrognati, yarık damak, glossopitozdan oluşan üçlü triad olarak tanımlanmıştır. Bu hastalarda konjenital kalp hastalığı görülme riskinin arttığı bilinmektedir. Tanımlanan olgu, yenidoğan erkek hasta, yarık damak, mikrognati, glossopitoz ve perimembranöz ventriküler septal defekti vardı. Sendromun prenatal tanısı zordur. Ancak doğumda yapılan dikkatli bir fizik inceleme ile tanı basit olarak konabilir ve uygun tekniklerle anomaliler açısından taranabilir. ©2007, Fırat Üniversitesi, Tıp Fakültesi

Keywords

• Pierre Robin Sendromu, konjenital kalp hastalığı

References

1. Bush PG, Williams AJ. Incidence of the Robin Anomalad (Pierre Robin syndrome). Br J Plast Surg 1983;36:434-437.
2. Tunçbilek G, Ozgur F, Balcı S. 1229 yarık dudak ve damak hastasında görülen ek malformasyon ve sendromlar. Çocuk Sağlığı ve Hastalıkları Dergisi 2004; 47:172-177.
3. Hsieh YY, Chang CC, Tsai HD, et al. The prenatal diagnosis of Pierre-Robin sequence. Prenat Diagn 1999;19:567-569.
4. Holder-Espinasse M, Abadie V, Cormier-Daire V, et al. Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr 2001;139:588-590.
5. Waters ET, Oberman JP, Biswas AK. Pierre Robin sequence and double aortic arch: a case report. Int J Pediatr Otorhinolaryngol 2005;69:105-110.
6. Milerad J, Larson O, PhD D, Hagberg C, Ideberg M. Associated malformations in infants with cleft lip and palate: a prospective, population-based study. Pediatrics 1997;100:180-186.
7. Sher AE. Mechanisms of airway obstruction in Robin sequence: implications for treatment. Cleft Palate Craniofac J 1992;29:224- 231.
8. Carey JC, Fineman RM, Ziter FA. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. J Pediatr 1982;101:858-864.

9. Bromley B, Benacerraf BR. Solid masses on the fetal surface of the placenta: differential diagnosis and clinical outcome. J Ultrasound Med 1994;13:883-886.
10. Nicolaides KH, Salvesen DR, Snijders RJ, Gosden CM. Fetal facial defects: associated malformations and chromosomal abnormalities. Fetal Diagn Ther 1993;8:1-9.
11. Geis N, Seto B, Bartoshesky L, Lewis MB, Pashayan HM. The prevalence of congenital heart disease among the population of a metropolitan cleft lip and palate clinic. Cleft Palate J 1981;18:19- 23.
12. Kabul Tarihi: 15.12.2006