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November 1972

The Upper Limb–Cardiovascular Syndrome: A Report of Two African Cases With a Review of the Literature

Author Affiliations

Kinshasa, Republic of the Congo
From the Department of Pediatrics, Cliniques Universitaires, Université Lovanium, Kinshasa, Republic of the Congo.

Am J Dis Child. 1972;124(5):779-783. doi:10.1001/archpedi.1972.02110170157027

Since the classical description by Holt and Oram, in 1960, of the upper limb-cardiovascular syndrome, 108 cases have been reported. Our two cases occurred in Negro children age 11 and 32 months and are probably the first to be reported from the African continent. The cardiac defects in the two patients consisted of patent ductus arteriosus and tetralogy of Fallot, respectively. Most interesting were the anomalies involving the upper extremities: the thumbs were either missing or abnormal in both patients; the left acromial process was abnormal in one; and roentgenograms of the hands and wrists disclosed a complete absence of ossification centers in both patients. A review of the literature disclosed that this roentgenographic feature was present in 16% of the cases mentioned.