A mother brings into the emergency department a frail-looking infant with blue sclera and arm and leg deformities. The mom said she was changing her diaper and heard a "snap.". She put her shirt on and she heard another "snap."
She says that the baby has been crying, but eating a little. Mom reports a clavicle fracture in the delivery room, but the doctors told her it was nothing and would heal fine. The nurse notes a small lump on her right clavicle. It is not painful to the touch. The infants' left forearm and right femur appear swollen and deformed. Based on your clinical knowledge of birth defects, your best answer to the mother would be: 1. "We will call the doctor to do a skeletal survey.".
2. "We will call the Child Protective Services team to rule out abuse.".
3. "We will call Genetics to see if any genetic birth defects run in your family.".
4. All of the above.
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1. Often, children with osteogenesis imperfect (OI) are misdiagnosed; therefore, all children should undergo steps to rule out abuse, then proceed with genetic counseling, testing to verify a genetic disorder. The blue sclera and fractures without severe trauma are signs of OI.
2. Often, children with osteogenesis imperfect (OI) are misdiagnosed; therefore, all children should undergo steps to rule out abuse.
3. Often, children with osteogenesis imperfect (OI) are misdiagnosed; therefore, all children should undergo steps to rule out abuse, then proceed with genetic counseling, testing to verify a genetic disorder.
4. All of the responses are correct. Often, children with osteogenesis imperfect (OI) are misdiagnosed; therefore, all children should undergo steps to rule out abuse, then proceed with genetic counseling, testing to verify a genetic disorder. The blue sclera and fractures without severe trauma are signs of OI.
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