Figure 3
CT urography s/o a heterogenous density lesion with multiple foci of fat and soft tissue in left adrenal? myelolipoma? adenoma. DISCUSSION Bardet-Biedl syndrome is an autosomal recessive. It is genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney BBSome, a stable complex involved in signalling receptor trafficking to and from cilia summary by Scheidecker et al. 2
Source publication
Bardet-Biedl Syndrome (BBS) is a very rare genetically heterogenous disorder. Here is a case of 27 yr. old obese male presented with acute gastroenteritis with shock in our department. He had polydactyly in both upper limb and left lower limb, blindness since childhood, with difficult in learning and delayed onset of milestones. Patient’s sibling (...
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Purpose
Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020.
Methods
Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and ex...
Bardet-Biedl syndrome (BBS), also known as Laurence-Moon-Bardet-Biedl syndrome, is a unique autosomal recessive genetic disorder that involves multiple organ systems with an incidence under 1/100,000 in Europe and the USA. We present a case of a 27-year-old male with BBS and a past medical history of hypertension.He was diagnosed with BBS when he w...
Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairment of any organ may complicate the clinical picture...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on one patient. We identified a novel homozygous varia...
Bardet‐Biedl syndrome (BBS), a rare primary form of ciliopathy, with heterogeneous clinical and genetic presentation is characterized by rod cone dystrophy, obesity, polydactyly, urogenital abnormalities, and cognitive impairment. Here, we delineate the genetic profile in a cohort of 108 BBS patients from India by targeted gene sequencing‐based app...
