Musculosceletal Disorders in Pediatrics

Question 1

Osteogenesis imperfecta (Causes,symptoms, Treatment)

Answer 1

○ Cause: hereditary defects of type I collagen, usually autosomal dominant.

○ Symptoms: abnormal bone fragility, frequent fractures, blue sclera, dental
imperfections, hearing loss (fragile ossicles)

○ Tx: Bisphosphonates, calcium, vitamin D

Question 2

Rickets

Answer 2

Definition: Failure of mineralization of growing skeleton, usually due to low vitamin D.
○ S/S: pathological bow legs (genu varum), bead-like costochondral junctions (rachitic rosary), craniotabes (soft skull).
○ Diagnosis: Clinical presentation and LOW vitamin D + LOL serum calcium and phospate+ HIGH ALP