title: Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
abstract: Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy. The risk for HOOD patients to have a child with HOOD who will develop renal failure cannot easily be deduced from published pedigrees. We have studied a large family with 30 patients with HOOD and have analysed 34 kindreds with HOOD nephropathy from published reports, comprising 213 patients. For a patient with HOOD from a family in which HOOD nephropathy occurs, the risk of having a child with HOOD nephropathy is about 1:4; the risk of having a child in whom renal failure will develop is about 1:10.
authors.affiliation: Department of Nephrology, University Hospital, Leiden, The Netherlands.
authors.forename: B J
authors.initials: BJ
authors.lastname: Looij
authors.forename: R L
authors.initials: RL
authors.lastname: te Slaa
authors.forename: B L
authors.initials: BL
authors.lastname: Hogewind
authors.forename: J J
authors.initials: JJ
authors.lastname: van de Kamp
mesh_terms: D000328:Adult; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D009261:Nail-Patella Syndrome / Q000235:genetics*; D010375:Pedigree