Sign In
Individual Sign In
Create an Account
Institutional Sign In
OpenAthens Shibboleth
Citations 0
Special Feature
August 2005

Picture of the Month—Quiz Case

Author Affiliations

Author Affiliations: The Paul C. Gaffney Diagnostic Referral Service, Department of Pediatrics, Children’s Hospital of Pittsburgh, Pittsburgh, Pa.


Copyright 2005 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2005

Arch Pediatr Adolesc Med. 2005;159(8):721-723. doi:10.1001/archpedi.159.8.721

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.

Figure 1.
Image not available

Physical findings in a 28-year-old man.

Figure 2.
Image not available

“Thumb sign”: when the hand is clenched without assistance, the entire thumbnail projects beyond the border of the hand.

Figure 3.
Image not available

“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?