Differentials

SIGNS / SYMPTOMS
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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.

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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.

SIGNS / SYMPTOMS
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SIGNS / SYMPTOMS

Diagnosis is supported by absence of other features of OI including blue-gray sclera, dental abnormalities, and hearing loss.

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Clinical diagnosis.

SIGNS / SYMPTOMS
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SIGNS / SYMPTOMS

There may be early loss of primary dentition and chondrocalcinosis.

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Laboratory studies: may reveal low serum alkaline phosphatase activity, elevated serum pyridoxal-5'-phosphate, and elevated urinary phosphoethanolamine. Genetic testing: pathogenic variants in ALPL.

SIGNS / SYMPTOMS
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SIGNS / SYMPTOMS

Pseudoglioma, cataracts, and/or blindness may be present.

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Genetic testing: pathogenic variants in LRP5.

SIGNS / SYMPTOMS
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SIGNS / SYMPTOMS

Typically characterized by acroosteolysis and dysmorphic facial features.

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Genetic testing: pathogenic variants in NOTCH2.

SIGNS / SYMPTOMS
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SIGNS / SYMPTOMS

X-linked inheritance pattern may be apparent on examination of family history; absence of extraskeletal manifestations observed in OI.

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Genetic testing: pathogenic variants in PLS3.

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