Try it
Biochemistry · Collagen disorders
Sample itemA child has hyperextensible skin, joint hypermobility, and easy bruising due to defective collagen processing. What disorder is most likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Ehlers-Danlos syndrome
Ehlers-Danlos syndromes are inherited connective-tissue disorders involving collagen structure or processing and commonly cause skin hyperextensibility, joint hypermobility, and tissue fragility.
Option by option
A. Osteogenesis imperfecta
Osteogenesis imperfecta is a type I collagen disorder dominated by bone fragility.
B. Ehlers-Danlos syndrome (correct)
Correct. The skin and joint phenotype is characteristic Ehlers-Danlos syndrome.
C. Marfan syndrome
Marfan syndrome involves fibrillin and often causes lens and aortic disease.
D. Scurvy only
Scurvy is acquired vitamin C deficiency, not an inherited collagen-processing defect.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
More Biochemistry questions
- Nucleotide metabolismA 4-year-old boy has intellectual disability, dystonia, self-mutilation and hyperuricaem…
- VitaminsA patient with megaloblastic anaemia and mild neurological signs has raised serum methyl…
- Amino acid metabolismA baby has a mousy odour, fair skin and developmental delay. Which enzyme is deficient?
- Glycogen storage diseasesA child has severe fasting hypoglycaemia, hepatomegaly, lactic acidosis and hyperuricaem…