Öz
Laurence-Moon-Biedl syndrome is a rare, genetically autosomal recessive disorder, characterized by progressive retinal dystrophy, Polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. A-3-months old boy with atypical face, depressed nose bridge, 7 fingers on the right hand and 6 on the left hand and the feet accompanied by bilateral renal parenchymal disease and chorioretinal atrophy. He had a 8-years old sister who was diagnosed as Laurence-Moon-Biedl syndrome and was under follow-up. Early detection of otolaryngologic, audiologic, dental and speech pathologies will decrease the long-term morbidities of patients. This case is reported, as it is the second case in the family, to focus on its autosomal recessive inheritance, the importance of genetic counselling and unwanted results of consanguinity.
Anahtar Kelimeler
Kaynakça
- 1- Jones KL. Miscellaneous Syndromes, Bardet-biedl Syndrome. In: Hummel T, eds. Smiths recognizable patterns of human malformation. 6th ed. Philadelphia: Elsevier Inc.; 2006. p. 676-7
- 2- Laurence JZ, Moon RC. Four cases of "retinitis pigmentosa "occurring in the same family, and accompanied by general imperfections of development. Ophthalmol Rev 1866;2:32-41
- 3- Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 1982;100(2):285-8
- 4- Green JS, Parfrey PS, Harnett JD, FaridNR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989,321(15):1002-9
- 5- Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36(6):437-46
- 6- Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. NEngl J Med 1988;319(10):615-8
- 7- Özer G, Yüksel B, Süleymanova D, Alhan E, Demircan N, Onenli N. Clinical features of Bardet-Biedl syndrome. Acta Paediatr Jpn. 1995;37(2):233-6
- 8- Al Herbish AS, Al Jurayyan N, Olasope A, Abdullah AM, Al Nuaim AA. Childhood obesity: Referred cases to a tertiary health center in Riyadh, Saudi Arabia.Saudi J Gastroenterol 1999;5(2):85-88
Öz
Laurence-Moon-Biedl sendromu ekstremite patolojileri, ilerleyici retinal distrofı, böbrek tutulumu, şişmanlık, mental retardasyon, hipogonadizm ile karakterize otozomal resesif geçişli nadir bir hastalıktır. Üç aylık erkek hastanın muayenesinde, atipik yüz görünümü, burun kökü basıklığı, sağ elde 7parmak, sol el ve her iki ayakta 6 parmak, iki taraflı böbrek parankim hastalığı, koriyoretinal atroflsi saptandı. Soygeçmişinde 8 yaşındaki ablasının Laurence-Moon-Biedl sendromu tanısı ile takip edildiği öğrenildi. Hastalığın erken dönemde otolaringolojik, işitme, diş ve konuşma patolojileri yönünden değerlendirilmesi hastalarda uzun dönemde oluşabilecek kalıcı bozuklukları azaltacaktır. Bu olgu, aynı ailenin 2. çocuğunda saptandığından, hastalığın otozomal resesif geçişini, akraba evliliğinin yaratabileceği sorunları ve genetik danışmanın önemini vurgulamak için sunulmuştur.
Anahtar Kelimeler
Kaynakça
- 1- Jones KL. Miscellaneous Syndromes, Bardet-biedl Syndrome. In: Hummel T, eds. Smiths recognizable patterns of human malformation. 6th ed. Philadelphia: Elsevier Inc.; 2006. p. 676-7
- 2- Laurence JZ, Moon RC. Four cases of "retinitis pigmentosa "occurring in the same family, and accompanied by general imperfections of development. Ophthalmol Rev 1866;2:32-41
- 3- Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 1982;100(2):285-8
- 4- Green JS, Parfrey PS, Harnett JD, FaridNR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989,321(15):1002-9
- 5- Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36(6):437-46
- 6- Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. NEngl J Med 1988;319(10):615-8
- 7- Özer G, Yüksel B, Süleymanova D, Alhan E, Demircan N, Onenli N. Clinical features of Bardet-Biedl syndrome. Acta Paediatr Jpn. 1995;37(2):233-6
- 8- Al Herbish AS, Al Jurayyan N, Olasope A, Abdullah AM, Al Nuaim AA. Childhood obesity: Referred cases to a tertiary health center in Riyadh, Saudi Arabia.Saudi J Gastroenterol 1999;5(2):85-88
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Nisan 2010 |
| Yayımlandığı Sayı | Yıl 2010 Cilt: 41 Sayı: 3 |