Atypical association of Duane retraction syndrome and Bardet Biedl syndrome
نویسندگان
چکیده
منابع مشابه
A Case of Bardet-Biedl Syndrome
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
متن کاملBardet-Biedl Syndrome with Bronchiectasis: A Rare Association
We are presenting a 16-year-old boy who presented with recurrent respiratory tract infection since childhood with hypogonadism, obesity, dimness of vision and delayed developmental milestones. On further examination, he was found to be a case of Bardet-Biedl syndrome (BBS), a rare genetic disorder with varied presentation associated with bronchiectasis. BBS is diagnosed mainly based on the clin...
متن کاملBardet-Biedl Syndrome with End Stage Renal Disease
Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...
متن کامل[A case report of Bardet-Biedl syndrome].
The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome.
متن کاملIs Duane retraction syndrome part of the VACTERL association?
We report here a patient with type 1 Duane's retraction syndrome and multiple congenital abnormalities as a result of the VACTERL association. The presented combination of Duane's retraction syndrome and the VACTERL association has not been reported in the literature. The present case was instructive for reviewing the continuous spectrum of ocular anomalies that accompany the VACTERL association.
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ژورنال
عنوان ژورنال: Indian Journal of Ophthalmology
سال: 2007
ISSN: 0301-4738
DOI: 10.4103/0301-4738.30710