id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_rczlvqtz2vgd5jjl3dfu2wtveu	A David	Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes	1999.0	5	.pdf	application/pdf	5164	806	72	Albert David, Pierre Bitoun, Didier Lacombe, Jean-Claude Lambert, Annie Nivelon, McKusick-Kaufman syndrome (MKKS) is years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental MKKS are hydrometrocolpos and polydactyly "hydrometrocolpos-polydactyly syndrome". renal dysplasia, retinal degeneration, and mental impairment,11 12 reported in more than 500 obesity, and the ERG, at the age of 1 year, confirmed retinal dysfunction. the visual field were noted at the age of 2 years. BBS phenotype associated with vaginal atresia, the diVerential diagnosis of BBS and MKKS. BBS are unavailable routinely, genetic counselling for parents of newborns with hydrometrocolpos and polydactyly should be much more Family studies of congenital heart disease II: a syndrome of hydrometrocolpos, postaxial polydactyly and congenital heart Table 2 Reported cases of vaginal atresia in BBS 36, case 3 Vaginal atresia detected at age 13 diVerences among patients with Bardet-Biedl syndrome Bardet-Biedl syndrome after renal transplantation. McKusick-Kaufman and Bardet-Biedl syndromes: are they	./cache/work_rczlvqtz2vgd5jjl3dfu2wtveu.pdf	./txt/work_rczlvqtz2vgd5jjl3dfu2wtveu.txt