Öz
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.
Anahtar Kelimeler
Kaynakça
- 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
Öz
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.
Anahtar Kelimeler
Kaynakça
- 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
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Araştırma |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Mart 2012 |
| Yayımlandığı Sayı | Yıl 2012 Cilt: 37 Sayı: 1 |
