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August 1975

Picture of the Month

Author Affiliations

From the Division of Genetics, Department of Medicine (Mss. Cassidy and McGee), and the departments of medicine and pediatrics (Dr. Engel), Vanderbilt University School of Medicine, Nashville, Tenn.

Am J Dis Child. 1975;129(8):951-952. doi:10.1001/archpedi.1975.02120450057011

Denouement and Discussion 

Trisomy 8 Syndrome 

Manifestations  Manifestations include moderate psychomotor retardation, particularly in speech, which is often delayed and poorly articulated; a slender build with narrow shoulder and pelvic girdle; joint contractures and deviations, particularly of the fingers and toes (clinodactyly and camptodactyly); and other skeletal anomalies, especially of ribs and vertebrae. Kyphoscoliosis is common in older patients. The face is often asymmetric with a sharp or broad-based pug nose, an everted lower lip, and a high-arched or cleft palate. The ears may be large and malformed, often with a prominent anthelix that is fused to the descending portion of the helix, and a large, rotated lobule. Other striking features include a short neck, absence or hypoplasia of the patellae, and deep palmar or plantar furrows or both.Visceral anomalies consist of congenital heart malformations, particularly septal defects and large vessel anomalies; renal defects, often hydronephrosis and ureteral reflux;

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