Denouement and Discussion
(Upper Limb Cardiovascular Syndrome)
Congenital heart disease combined with skeletal abnormalities of the hand and upper extremity constitute the major findings of the Holt-Oram syndrome. The thumb is most frequently involved. Characteristically it has three phalanges instead of two, is located in the same plane as the other fingers, and resembles the other fingers rather than a thumb. There is difficulty in opposition of the thumb and index finger. In some patients it may be shortened, hypoplastic, or completely absent. Ulnar deviation of the distal phalanx of the thumb is also found. Occasionally the thumb may be absent in one hand and finger-like in the other. Syndactyly between the thumb and index finger has been reported. Frequently the radius is hypoplastic, malformed, or synostosed with the ulna. The metacarpals may also be absent or hypoplastic. The thenar eminence may show flattening with distal
GELLIS SS, FEINGOLD M. Picture of the Month. Am J Dis Child. 1966;112(5):465–466. doi:10.1001/archpedi.1966.02090140137014
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