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A Useful Physical Finding in the Marfan Syndrome

Bryan A. Walker, MRCP, MD; J. Lamont Murdoch, MD

Arch Intern Med. 1970;126(2):276-277.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

The Marfan syndrome is inherited as an autosomal dominant trait, but there is often incomplete penetrance of the gene resulting in a variable phenotype. This variability leads to problems in diagnosis when one is faced with a tall gangly individual with minimal ocular or cardiovascular involvement. In order to confirm the clinical impression of arachnodactyly in patients with the Marfan syndrome, Steinberg¹ in 1966 popularized the thumb sign, which was first described by Parker and Hare² in 1945. This sign is elicited by having the patient make a fist over the clenched thumb. When the result is positive the thumb extends significantly beyond the ulnar margin of the hand (Fig 1). Unfortunately this sign is negative in a sufficiently high proportion of patients with the Marfan syndrome as to reduce its usefulness when used alone (Table). It is also positive in a small proportion of normal children (1.1% . . . [Full Text PDF of this Article]

Author Affiliations
Baltimore

From the Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore. Dr. Walker is now in private practice in Liverpool, England. Dr. Murdoch is now with Loma Linda (Calif) University School of Medicine.

Footnotes
Received for publication April 8, 1970; accepted April 21.

Reprint requests to Department of Medicine, Loma Linda University, Loma Linda, Calif 92354 (Dr. Murdoch).

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