Article
Phenotypically dissimilar hypophosphatasia in two sibships.
American journal of medical genetics - 1 Jan 1992
Macfarlane J D, Kroon H M, van der Harten J J
Abstract excerpt
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,...
Topics
- Adult
- Alkaline Phosphatase
- Bone and Bones
- Child, Preschool
- Consanguinity
- Diseases in Twins
- Female
- Genes, Recessive
- Humans
- Hypophosphatasia
- Infant, Newborn
- Male