Mrs. Wright presents to the genetics clinic concerned that the Vitamin
D resistant rickets in her family may be genetic. Mrs. Wright has decreased
seurm phosphorus, but no bony abnormalities. Her father had bowed
legs as do two of her sisters. She has a brother who is unaffected and
normal serum levels of phosphorus. Her youngest affected sister has four
children. She has 2 boys and 2 girls. Of these children, a daughter,
has hypophosphotemia and bowed legs. One son has bowed legs and short
stature. The other two children are unaffected.
Mrs. Wright also has four children, 2 boys and 2 girls. She reports
that one of her sons and one of her daughters had hypophosptetemia
and short stature. Attending the appointment with her is her granddaughter.
This granddaughter is the child of her affected son. This young
lady has bowed legs.
Given the clinical features and the family history you suspect
autosomal dominant Vitamin D resistant rickets.