title: Phenotypically dissimilar hypophosphatasia in two sibships.
abstract: Autosomal dominant and autosomal recessive forms of hypophosphatasia have been reported; generally the clinical picture runs true to form in families. In each of 2 kindreds, 2 sibs were clinically affected by hypophosphatasia to a markedly different extent. One set of sibs showed the lethal (perinatal) and infantile forms. The other showed the dental and adult forms. In both families there was consanguinity, albeit distant, and clinical expression in sibs supporting autosomal recessive inheritance.
authors.affiliation: Department of Rheumatology, University Hospital, Leiden, The Netherlands.
authors.forename: J D
authors.initials: JD
authors.lastname: Macfarlane
authors.forename: H M
authors.initials: HM
authors.lastname: Kroon
authors.forename: J J
authors.initials: JJ
authors.lastname: van der Harten
mesh_terms: D000328:Adult; D000469:Alkaline Phosphatase / Q000172:deficiency; D001842:Bone and Bones / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014429:Twins, Dizygotic
chemical_list: D000469:Alkaline Phosphatase