Rare presentation of bardet–biedl syndrome as chronic liver disease with splenomegaly

Autor:	J Manjula, K Ravi, V N Prashanth
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	bardet–biedl syndrome chronic liver disease developmental delay polydactyly retinitis pigmentosa Internal medicine RC31-1245
Zdroj:	APIK Journal of Internal Medicine, Vol 8, Iss 2, Pp 81-84 (2020)
Druh dokumentu:	article
ISSN:	2666-1802 2666-1810
DOI:	10.4103/AJIM.AJIM_45_19
Popis:	Bardet–Biedl syndrome is a rare ciliopathic human autosomal-recessive disorder. It is a disorder that affects many parts of the body. Less than 15 cases have been reported from India. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. It is characterized principally by the cardinal symptoms of marked central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The frequency of the syndrome is estimated to be 1:160,000.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/dc15b06fb2534ea59b46cc098e2155b2 Zobrazit plný text záznamu View record in DOAJ