Abstract

A family with the Holt-Oram syndrome is described; both the proband and her father had unusually severe upper extremity malformations. The clinical, cardiologic and dermatoglyphic findings of the proband and the family members are discussed and the relevant literature is cited for comparison and contrast. This case is apparently more severe than others of the kind so far to have been reported.

Keywords: amelia, congenital malformation, Holt-Oram syndrome, phocomelia

How to cite

1.
Çevik N, Çevik N, Bilgiç A. A case of Holt-Oram syndrome severely affecting the skeleton of the upper limbs. Turk J Pediatr 1985; 27: 25-32. https://doi.org/10.24953/turkjpediatr.1985.3971