Denouement and Discussion
Trisomy 8 Syndrome
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;
Gellis SS, Feingold M, Cassidy SB, McGee BJ, Engel E. Picture of the Month. Am J Dis Child. 1975;129(8):951–952. doi:10.1001/archpedi.1975.02120450057011
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