Holt-Oram syndrome in a Puerto Rican family--case reports.
The Holt-Oram syndrome is reported for the first time in a Puerto Rican family of one mother and two daughters. All had severe upper limb anomalies and secundum atrial septal defect. One daughter, the proband, had, in addition, a persistent left superior vena cava, a cardiac anomaly that has not been previously reported in association with the Holt-Oram syndrome.
Cheng
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Department of Medicine, George Washington University School of Medicine and Health Sciences, Washington, D.C.
D000293:Adolescent; D000328:Adult; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D011647:Puerto Rico / Q000208:ethnology; D011859:Radiography; D013577:Syndrome; D014683:Vena Cava, Superior / Q000002:abnormalities