Osseous signs and symptoms |
Swelling wrists and ankles |
Delayed fontanelle closure (normally closed by age 2 y) |
Delayed tooth eruption (no incisors by age 10 mo, no molars by age 18 mo) |
Leg deformity (genu varum, genu valgum, windswept deformity) |
Rachitic rosary (enlarged costochondral joints—felt anteriorly, lateral to the nipple line) |
Frontal bossing |
Craniotabes (softening of skull bones, usually evident on palpation of cranial sutures in first 3 mo) |
Bone pain, restlessness, and irritability |
Radiographic features |
Splaying, fraying, cupping, and coarse trabecular pattern of metaphyses |
Widening of the growth plate |
Osteopenia |
Pelvic deformities including outlet narrowing (risk of obstructed labor and death) |
Long-term deformities in keeping with clinical deformities |
Minimal trauma fracture |
Non-osseous features |
Hypocalcemic seizure and tetany |
Hypocalcemic dilated cardiomyopathy (heart failure, arrhythmia, cardiac arrest, death) |
Failure to thrive and poor linear growth |
Delayed gross motor development with muscle weakness |
Raised intracranial pressure |