Differential Diagnosis
The patient's clinical presentation suggests a genetic disorder affecting bone health and hearing. The following differential diagnoses are considered:
Single most likely diagnosis
- E. Type I collagen: The patient's history of multiple fractures, hearing loss, and joint hypermobility is consistent with Osteogenesis Imperfecta (OI), a genetic disorder caused by mutations in the COL1A1 or COL1A2 genes that encode type I collagen. The mother's similar history and symptoms further support this diagnosis.
Other Likely diagnoses
- B. Fibrillin-1: Marfan syndrome, caused by mutations in the FBN1 gene, can present with joint hypermobility and increased risk of fractures, although it is less likely given the patient's specific combination of symptoms and family history.
- C. Fibroblast growth factor receptor 3: Achondroplasia, caused by mutations in the FGFR3 gene, is a common cause of short stature, but it does not typically present with the patient's specific combination of fractures, hearing loss, and joint hypermobility.
Do Not Miss
- A. Dystrophin: Although Duchenne muscular dystrophy (DMD) is a serious condition, it is less likely given the patient's normal muscle strength and lack of other typical DMD symptoms. However, it is essential to consider DMD in the differential diagnosis due to its severe prognosis and potential for early intervention.
- D. Fragile X messenger ribonucleoprotein 1: Fragile X syndrome can present with developmental delays, including speech delay, but it is not typically associated with the patient's specific combination of fractures, hearing loss, and joint hypermobility.
Rare diagnoses
- Other rare genetic disorders affecting bone health and hearing, such as Stickler syndrome or Ehlers-Danlos syndrome, may be considered, but they are less likely given the patient's specific combination of symptoms and family history.