Deck 14: Osteogenesis Imperfecta

Question 1

The parents of a school-age child are concerned because the child experiences a fracture every 2 to 3 months for no apparent reason. Which should the nurse explain about genetic testing for osteogenesis imperfecta?

A) It predicts the frequency of bone fractures.
B) It checks for mutations in the genes that code for collage proteins.
C) It determines when the child will outgrow the frequency of fractures.
D) It analyzes the order of chromosomes to determine if a gene is missing.

Answer 1

B
Explanation: Osteogenesis imperfecta (OI) is a group of genetic disorders that a¬ffects the development of bones. Specifically, mutations in the genes that are normally responsible for the coding of proteins for collagen type I are compromised, leading to the weakening of connective tissue, especially bones. Genetic testing for OI does not predict the frequency of bone fractures. OI is a genetic disorder that cannot be outgrown. Genetic testing for OI does not analyze the order of chromosomes to detect a missing gene.

Question 2

You suspect that a client with a history of frequent fractures has undiagnosed dentinogenesis imperfecta. Which assessment finding supports your suspicion?

A) Blue sclera
B) Progressive hearing loss
C) Brown teeth that are broken and worn down
D) Limbs that are short in relation to the body size

Answer 2

C
Explanation: Dentinogenesis imperfecta (DI) is characterized by discolored teeth, usually a gray or brown color, that easily degrade, break, or wear down. Individuals with type II osteogenesis imperfecta (OI) will have a blue or gray tint to the sclera and progressive hearing loss. Individuals with type VII OI have limbs that are short in relation to the body size.

Question 3

A toddler with a history of fractures is brought to the emergency department for treatment of a broken leg. What should you prepare to rule out as a cause before considering the client has osteogenesis imperfecta (OI)?

A) Muscular dystrophy
B) Battered child syndrome
C) Oppositional personality
D) Attention deficit disorder

Answer 3

B
Explanation: Although pathologic fractures are a feature of OI, other causes, such as nutritional deficiencies, malignancies, or even battered child syndrome, may also need to be ruled out at the time of diagnosis. Muscular dystrophy, oppositional personality, and attention deficit disorder are not identified as causes for fractures.

Question 4

An adult client is diagnosed with osteogenesis imperfecta (OI) after having x-rays for spinal pain. Which finding was used to support the diagnosis of OI?

A) Wormian bones
B) Popcorn deposits
C) Codfish vertebrae
D) Accordion femora

Question 5

A school-age child with a history of spontaneous fractures has coxa vera present on a recent hip x-ray. What should this finding indicate to you?

A) Client has the mildest for of OI
B) Client has undiagnosed type VII osteogenesis imperfecta (OI)
C) Client has an associated hearing loss and change in teeth color
D) Client has nutritional deficiencies that can correct the x-ray finding

Question 6

A toddler being treated for a metastatic disease is brought for emergency treatment after experiencing a fractured arm. A sample of bone from a biopsy shows a fish scale appearance and the child's alkaline phosphatase level is elevated. For which type of osteogenesis imperfecta (OI) will you plan care for this client?

A) I
B) II
C) V
D) VI

Question 7

The parent of a child with osteogenesis imperfecta (OI) is upset because a dual energy x-ray absorptiometry (DEXA) scan did not show evidence of the disorder. What should you say in response to the parent's statement?

A) "The scan wasn't completed correctly."
B) "The DEXA scan does not evaluate collagen."
C) "The disorder wasn't present at the time of the DEXA scan."
D) "The DEXA scan should have been repeated in 3 months to diagnose OI."

Question 8

A client diagnosed with type I osteogenesis imperfecta (OI) has no family history for the disorder. Which should you consider as a reason for the client to have this genetic disease?

A) X-linked trait
B) Sporadic mutation
C) Autosomal recessive trait
D) Autosomal dominant trait

Question 9

You learn that a client with type I osteogenesis imperfecta (OI) has no other family members with the disorder. Which type of genetic testing should you prepare the client to have completed?

A) DNA analysis
B) Biochemical analysis
C) Chromosomal analysis
D) Fluorescence in situ hybridization (FISH)

Question 10

A school-age child with type I osteogenesis imperfecta (OI) is experiencing a spinal deformity because of repeated vertebral fractures. Which treatment should you expect this client to have to ensure mobility and function of the spinal cord?

A) None
B) Bedrest
C) Exercise program
D) Intramedullary rodding