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May 1985

Picture of the Month

Author Affiliations

Contributed from the Department of Genetics and Birth Defects, Kennedy Memorial Hospital, Brighton, Mass.

Am J Dis Child. 1985;139(5):529-530. doi:10.1001/archpedi.1985.02140070103049

Denouement and Discussion 

Syndromes Associated With Thumb Abnormalities 

Diagnoses  Rubinstein-Taybi Syndrome.—The terminal phalanges of the toes and thumbs (and frequently other fingers) are broad and may be angulated. Characteristic features of the face include downward-slanting palpebral fissures, strabismus, beaking of the nose, short philtrum, and microcephaly. Mental retardation and short stature are usually present.Holt-Oram Syndrome.—Thumb abnormalities vary and include aplasia, hypoplasia, or a triphalangeal thumb that is fingerlike in appearance and is usually on the same plane as the fingers. The radius, ulna, clavicle, and scapula may be abnormal. Although many types of congenital heart disease have been reported, the most common one is an atrial septal defect. Inheritance is in an autosomal dominant manner.Marfan's Syndrome.—The thumb sign occurs because of the hyperextensibility ofthe joints. The hand is large, and fingers are gracile. Skeletal abnormalities include long limbs, pectus deformities, kyphoscoliosis, genu recurvatum, and flat feet. The face is