[Laurence-Moon-Bardet-Biedl's syndrome].
نویسنده
چکیده
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by early onset retinitis pigmentosa, post axial polydactyly, central obesity, mental retardation, hypogonadism and kidney structural abnormalities or functional impairment.1 We report here a typical case of Laurence-Moon-Bardet-Biedl syndrome in an eleven-year old boy with additional finding of NASH. We also present a review of the diagnosis and management of this rare and interesting syndrome.
منابع مشابه
Laurence Moon Bardet Biedl syndrome (case report).
Laurence Moon Bardet Biedl Syndrome is a genetic abnormality associated with disorders like retinitis, obesity, polydactyl, learning disability. We report such a case in a 17 year old male patient.
متن کاملLaurence Moon Bardet Biedl Syndrome with anaemia.
Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.
متن کاملAudiological Profile in Laurencemoon Biedl Syndrome: A Case Study
Laurence-Moon Biedl (LMB) syndrome is an autosomal recessive genetic disorder, characterized by structural and functional abnormalities of organs [1]. This syndrome was first described by Laurence and Moon in 1866 [2]. This syndrome is also called Bardet-Biedl syndrome (BBS) as Bardet and Biedl added additional polydactyly feature [3]. The estimated incidence is 1:160,000 in northern European p...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Ugeskrift for laeger
دوره 134 25 شماره
صفحات -
تاریخ انتشار 1972