Which conditions are included in the differential diagnoses of physical child abuse when skeletal fractures are present?

Updated: Apr 24, 2017
  • Author: Angelo P Giardino, MD, MPH, PhD; Chief Editor: Caroly Pataki, MD  more...
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Skeletal fractures

For skeletal fractures, the differential diagnoses include normal variants of bone structure (may appear as suspicious findings on radiographs), congenital syphilis (leads to periosteal elevation), rickets or other mineralization deficits (cause bone fragility), and OI. OI is frequently raised as a possibility in cases of an unexplained fracture and possible physical abuse. Four types of OI are recognized, as follows:

  • Type I is the most common form, has autosomal dominant inheritance, and is responsible for 80% of patients. Other major findings of type I OI include mildly to moderately severe bone fragility with occasional fractures at birth, easy bruising, short stature, and blue sclera. Type I OI may be associated with a family history of hearing impairment. Type I may easily be confused with maltreatment, especially if all of the injuries are skeletal in nature. A thorough medical history and family history are essential.

  • Type II is a perinatal lethal form. Death typically occurs by age 1 month, with multiple fractures at birth. This type of OI is generally readily distinguishable from child physical abuse.

  • Type III is rare and is easily distinguished from maltreatment because of severe bone fragility and osteopenia, triangular facies, ligamentous laxity, skeletal deformity, and abnormal appearance of teeth.

  • Type IV is the most difficult to distinguish from maltreatment because bones may appear normal when the first fracture develops but are usually characterized by mild-to-moderate bone fragility, osteopenia, wormian bones, birth fractures in approximately one third of cases, and normal sclerae. Genetic consultation is necessary to pursue a more detailed workup for OI and the characterization of the collagen disorder.

The incidence of OI (all types) is estimated at 1 case in 20,000 live births; OI is much rarer than child abuse.

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