Holt-Oram syndrome in China: a collective review of 18 cases.
This is a collective review of all cases of HOS reported from China. Of the 24 total cases, 18 are living and are included in this report. The clinical features, including previously undescribed associated anomalies, mode of transmission in the family, genetic characteristics, and dermatoglyphics of this familial upper limb-cardiovascular syndrome, are presented. A practical classification of the syndrome is proposed based on the relative preponderance of either upper limb deformities or cardiovascular anomalies.
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D000293:Adolescent; D001145:Arrhythmias, Cardiac / Q000453:epidemiology / Q000235:genetics; D002681:China; D003878:Dermatoglyphics; D005260:Female; D005542:Forearm / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012744:Sex Ratio; D013577:Syndrome