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. 2020 Jun 2;13(3):241–243. doi: 10.4103/apc.APC_87_19

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