Differentials
Nonaccidental injury
SIGNS / SYMPTOMS
Metaphyseal corner fractures, bucket handle fractures, multiple fractures in various forms of healing, and complex skull fractures are suggestive of nonaccidental trauma. Diagnosis requires thorough evaluation of the child and accompanying social circumstances.
INVESTIGATIONS
Skeletal survey (including a repeat skeletal survey 11 to 14 days after presentation): identification of occult fractures (e.g., rib fractures, classic metaphyseal lesions, digit fractures); normal bone mineralization; no evidence of bone disease; possible soft tissue swelling.
Idiopathic juvenile osteoporosis
SIGNS / SYMPTOMS
Diagnosis is supported by absence of other features of OI including blue-gray sclera, dental abnormalities, and hearing loss.
INVESTIGATIONS
Clinical diagnosis.
Hypophosphatasia
SIGNS / SYMPTOMS
There may be early loss of primary dentition and chondrocalcinosis.
INVESTIGATIONS
Laboratory studies: may reveal low serum alkaline phosphatase activity, elevated serum pyridoxal-5'-phosphate, and elevated urinary phosphoethanolamine. Genetic testing: pathogenic variants in ALPL.
Osteoporosis pseudoglioma syndrome
SIGNS / SYMPTOMS
Pseudoglioma, cataracts, and/or blindness may be present.
INVESTIGATIONS
Genetic testing: pathogenic variants in LRP5.
Hajdu-Cheney syndrome
SIGNS / SYMPTOMS
Typically characterized by acroosteolysis and dysmorphic facial features.
INVESTIGATIONS
Genetic testing: pathogenic variants in NOTCH2.
Plastin 3-related osteoporosis
SIGNS / SYMPTOMS
X-linked inheritance pattern may be apparent on examination of family history; absence of extraskeletal manifestations observed in OI.
INVESTIGATIONS
Genetic testing: pathogenic variants in PLS3.
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