A 28-year-old man presented with numerous musculoskeletal findings, the following of which were noted (Figure 1): in the head and neck: dolichocephaly, malar hypoplasia, highly arched palate, retrognathia, and ectopia lentis with iridodonesis; in the extremities: long limbs (dolichostenomelia), long, tapered fingers (arachnodactyly), contractures of several joints, and pes planus, as well as “thumb sign” (Figure 2) and “wrist sign” (Figure 3); and in the torso: pectus carinatum, scoliosis, and striae atrophicae. His medical history was notable for spontaneous pneumothorax and aortic root dilatation.
Physical findings in a 28-year-old man.
“Thumb sign”: when the hand is clenched without assistance, the entire thumbnail projects beyond the border of the hand.
“Wrist sign”: when the wrist is grasped by the contralateral hand, the thumb overlaps the terminal phalanx of the fifth digit.
What is your diagnosis?
Zitelli BJ. Picture of the Month—Quiz Case. Arch Pediatr Adolesc Med. 2005;159(8):721–723. doi:10.1001/archpedi.159.8.721