Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents

E. Dellow, K. Harley, R. Unwin, O. Wrong, G. Winter, B. Parkins
1998 Nephrology, Dialysis and Transplantation  
Key words: amelogenesis imperfecta; nephrocalcinosis; in 1985 [3], was another brother and sister pair who presented in their first decade with amelogenesis imper-hypocalciuria; autosomal recessive; matrix proteins; renal failure fecta, enuresis, and intermittent urinary infections. Both had nephrocalcinosis and clinically undetectable tooth enamel with failure of the majority of the permanent teeth to erupt. Their amelogenesis imperfecta Cases Correspondence and offprint requests to: Professor
more » ... uests to: Professor Robert Unwin, Centre for Nephrology and Institute of Urology and Nephrology, Our sibling pair are a sister and brother whose parents
doi:10.1093/ndt/13.12.3193 pmid:9870488 fatcat:pdocogo3azc6zd745mzdwd7kwy