Table 2.
The case reports previously published on patients with Holt-Oram syndrome and identified malignancy
| Age/sex | Malignancy | Skeletal anomalies | Heart defect | References |
|---|---|---|---|---|
| 16 years/female | Adenocarcinoma | Short upper appendages with small scapulae, humeri, radii, and phalanges | Atrial septal defect* | Rabinowitz et al. 1971 |
| 24 years/male | Lymphosarcoma | Left arm 10 cm shorter than the right. Deformity of the end of the humerus with the congenital subluxation of the elbow; fusion of metacarpal bones; absence of left thumb, fifth finger, first and fifth metacarpal bones | Atrial septal defect | Nik-Akhtar et al. 1974 |
| 23 years/female | Pheochromocytoma | Bilateral agenesis of radial bone and first finger | Dextrocardia, single ventricle, pulmonary atresia | Yoshihara et al. 2008 |
| 41 years/male | Adenocarcinoma | Bilateral radial foreshortening, triphalangeal thumbs, digit aplasia | Not reported | Aherne et al. 2013 |
| 7 months/female | Nephroblastoma | Bilateral absence of the radial bones; deformed, shortened ulna bones; and bony ankylosis of the elbows | Ventricular septal defect | Usang et al. 2016 |
| 31 years/male | Squamous cell carcinoma | Bilateral thumb anomalies | Atrial septal defect | Rana et al. 2017 |
The patient HOS and malignancy characteristics are provided when available. *Patient refused catheterization but had findings consistent with ASD. HOS: Holt-Oram syndrome, ASD: Atrial septal defect