Differential Diagnosis
- Single most likely diagnosis:
- D) Abnormal synthesis of type I collagen: This is the most likely diagnosis, given the patient's presentation with a femoral fracture, multiple small bones within the sutures on skull x-ray, and decreased density of the long bones. These findings are consistent with Osteogenesis Imperfecta (OI), a genetic disorder characterized by abnormal synthesis of type I collagen, leading to fragile bones and increased risk of fractures.
- Other Likely diagnoses:
- E) Nonaccidental trauma: Although the patient's injuries could be consistent with nonaccidental trauma, the presence of multiple small bones within the sutures on skull x-ray and decreased density of the long bones suggests an underlying bone disorder.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.):
- E) Nonaccidental trauma: It is crucial to consider nonaccidental trauma in any case of unexplained injury in a child, as it can have severe consequences if missed.
- Rare diagnoses:
- A) Abnormal hydroxylation of 25-hydroxyvitamin D: This condition, known as Rickets, can cause bone softening and increased risk of fractures. However, the presence of multiple small bones within the sutures on skull x-ray is not typical of Rickets.
- B) Abnormal synthesis of elastin: This condition is associated with Cutis Laxa and Supravalvular Aortic Stenosis, but it does not typically present with the bone findings seen in this patient.
- C) Abnormal synthesis of fibrillin-1: This condition is associated with Marfan Syndrome, which can cause bone abnormalities, but the presentation is usually different from what is seen in this patient.