The upper limb-cardiovascular syndrome, (Holt-Oram syndrome).
Two families recently studied demonstrate the variability of expression of upper limb-cardiovascular syndrome. Four other patients with upper limb and cardiac anomalies and no significant family history may represent spontaneous mutations or examples impenetrance in antecedent generations, rather than phenocopies of the syndrome. Children under the care of the orthopedist for congenital anomalies of the upper limb should have a complete cardiac assessment.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000293:Adolescent; D002675:Child, Preschool; D005191:Family Characteristics; D005260:Female; D005787:Gene Frequency; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013577:Syndrome