BibTex RIS Cite

Mental Retardasyon, Jinekomasti ve Dismorfik Bulguları Olan Bir Olgu

Year 2012, Volume: 37 Issue: 1, 60 - 63, 01.03.2012

Abstract

Dismorfik yüz görünümü, obezite, jinekomasti ve mental gerilik nedeniyle Genetik Tanı Merkezimizde değerlendirilen 17 yaşındaki erkek olguya klinik olarak Börjeson Forsmann Lehmann Sendromu (BFLS) ön tanısı konuldu. Obezite ve mental gerilik nedeniyle başvuran hastalarda ayırıcı tanıda pek çok hastalık bulunmaktadır ve oldukça nadir görülen BFLS da bu hastalıklardan biridir. Bu çalışmada; BFLS ön tanısı düşündüğümüz olgunun bulgularını literatür bilgileri ışığında tartışmayı amaçladık.

References

  • Nussbaum RL, McInnes RR, Willard HF. Thompson&Thompson Genetics In Medicine. 7th Ed. Canada: Saunders Elsevier; 2007.
  • Jones KL. Smith’ s Recognizable Patterns of Human Malformation. 6th Ed. Philadelphia Pennsylvania: Saunders Elsevier; 2006.
  • Gecz J, Turner G, Nelson J, Partington M. The Börjeson-Forsmann-Lehman Syndrome. European Journal of Human Genetics. 2006; 14: 1233-37.
  • Crawford J, Lower KM, Hennekam RCM, Van Esch H, Megarbane A, Lynch SA, Turner G, Gecz J. Mutation screening in Börjeson-Forsmann-Lehman Syndrome: Identification of a Novel de novo PHF6 Mutation in a Female Patient. J Med Genet. 2006; 43: 238-43
  • Lower KM, Solders G, Bondeson ML, Nelson J, Brun A, Crawford J, Mulm G, Börjeson M, Turner G, Partington M, Gecz J. 1024>T(R342X) is a reccurent PHF6 mutation also found in the original BörjesonForsmann-Lehman Syndrome family. European Journal of Human Genetics. 2004; 12: 787-89.
  • Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L, Gecz J, Just W. Novel PHF6 mutation p.D333del causes Börjeson-ForsmannLehman Syndrome. J Med Genet. 2003; 40: e50
  • Vallee D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forsmann-Lehman Syndrome. J Med Genet. 2004; 41: 778-83.
  • Akın H, Yüce H, Tekedereli İ. X’ e Bağlı Mental Retardasyon: Bir Olgu. Fırat Tıp Dergisi. 2007; 12: 135-6

A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

Year 2012, Volume: 37 Issue: 1, 60 - 63, 01.03.2012

Abstract

The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature.

References

  • Nussbaum RL, McInnes RR, Willard HF. Thompson&Thompson Genetics In Medicine. 7th Ed. Canada: Saunders Elsevier; 2007.
  • Jones KL. Smith’ s Recognizable Patterns of Human Malformation. 6th Ed. Philadelphia Pennsylvania: Saunders Elsevier; 2006.
  • Gecz J, Turner G, Nelson J, Partington M. The Börjeson-Forsmann-Lehman Syndrome. European Journal of Human Genetics. 2006; 14: 1233-37.
  • Crawford J, Lower KM, Hennekam RCM, Van Esch H, Megarbane A, Lynch SA, Turner G, Gecz J. Mutation screening in Börjeson-Forsmann-Lehman Syndrome: Identification of a Novel de novo PHF6 Mutation in a Female Patient. J Med Genet. 2006; 43: 238-43
  • Lower KM, Solders G, Bondeson ML, Nelson J, Brun A, Crawford J, Mulm G, Börjeson M, Turner G, Partington M, Gecz J. 1024>T(R342X) is a reccurent PHF6 mutation also found in the original BörjesonForsmann-Lehman Syndrome family. European Journal of Human Genetics. 2004; 12: 787-89.
  • Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L, Gecz J, Just W. Novel PHF6 mutation p.D333del causes Börjeson-ForsmannLehman Syndrome. J Med Genet. 2003; 40: e50
  • Vallee D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forsmann-Lehman Syndrome. J Med Genet. 2004; 41: 778-83.
  • Akın H, Yüce H, Tekedereli İ. X’ e Bağlı Mental Retardasyon: Bir Olgu. Fırat Tıp Dergisi. 2007; 12: 135-6
There are 8 citations in total.

Details

Primary Language Turkish
Journal Section Research
Authors

Özge Özalp Yüreğir This is me

Hüseyin Aslan This is me

Sevcan Tuğ Bozdoğan This is me

Muhammed Hamza Müslümanoğlu This is me

Publication Date March 1, 2012
Published in Issue Year 2012 Volume: 37 Issue: 1

Cite

MLA Yüreğir, Özge Özalp et al. “Mental Retardasyon, Jinekomasti Ve Dismorfik Bulguları Olan Bir Olgu”. Cukurova Medical Journal, vol. 37, no. 1, 2012, pp. 60-63.