Table 1.

Clinical, radiographic, and molecular findings in patients 1–11.

Families	Pt	Age (yr)	Mutations	Ability to Walk	Generalized Osteopenia	Slender Long Bones	History of Multiple Fractures	Platyspondyly	Blue Slcerae	Rhizomelia	Popcorn Calcification	Remarks
Family 1	1	11	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	Yes	No	No	Yes
	2	6	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	Yes	No	No	Yes
Family 2	3	13	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	Yes	No	Yes	Yes	Bowel obstruction
	4	10	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	Yes	No	Yes	Yes
	5	9	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	Yes	No	Yes	Yes
Family 3	6	5	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	Yes	No	Yes	No	Absence of some carpal bones
Family 4	7	8	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	Yes	No	Yes	Yes
Family 5	8	15	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	Yes	No	No	No
Family 6	9	11	chr1:43212857A>G (Homozygous)	Never	Yes	Yes	Yes	No	No	No	Yes
	10	8	chr1:43212857A>G (Homozygous)	Never	N/A	N/A	Yes	N/A	N/A	N/A	N/A
Family 7	11	13	N/A His father is heterozygous for the mutation.	Never	Yes	Yes	Yes	Yes	No	Yes	No