Mixed Connective Tissue Disease & Overlap Syndromes — Practice
A 28-year-old man develops acute, severe, tearing interscapular back pain. He is tall with arachnodactyly, a high-arched palate, and a pectus deformity. Blood pressure differs by 30 mmHg between the two arms. Which of the following is the most likely underlying connective tissue defect?
AElastin haploinsufficiency
BLysyl hydroxylase deficiency
CType III collagen deficiency
DFibrillin-1 gene mutation