Skeletal abnormalities—most have them or can develop them. Dysplasia means something that does not form properly. Chondrodysplasia refers to the Metaphyses.
Metaphyseal dysplasia is found in 44-77%
Delayed bone maturation found in up to 100%
Rib +/- thoracic cage abnormalities f found in 32-52%
One study of 15 patients with SDS and SBDS mutations found that skeletal dysplasia was present in all patients & there was no correlation between severity of PI or blood counts
Secondary ossification centers have delayed appearance—they are normal and are just delayed/slow in developing. There is normalization with age.
· Widening and irregularity in ribs—this also occurs in Vit D deficiency and Rickets
· There can be progressive metaphyseal irregularity and sclerosis
· Those listed above do not cause pain or problems (Metaphyseal Dysplasia)
SDS patients also often have Osteopenia and wormian bones. These are not a secondary thing due to deficiencies. Careful radiographic follow-up of all patients is warranted. Osteopenia is likely due to low bone turnover…i.e. the bone making cells not doing their job fast enough. Appearance of the gestational mice in the lab with SDS showed normal skeletons—the only difference was the size.
Oral Study Results --SDS patients had more tooth decay and also had more mouth sores than the non-SDS patients in the study. They don’t know if there is anything that can be done to fight osteoporosis. It is primary to the condition. Other things need to be ruled out—just to be sure. Check for hypothyroid and hypoparathyroid. Vit K2 Co factor……
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America