Recombinant growth hormone therapy in a patient with brachydactyly: case report with literature review

Brachydactyly is a very rare congenital defect involving shortened fingers and/or toes. It can be a component of congenital or genetic syndromes, but it can also occur as an isolated defect, most often inherited in an autosomal dominant pattern. The current classification includes five main types of the disease (A-E) depending on the characteristic constellation of affected fingers and bones. According to the literature, some types may also be associated with height deficiency. To our best knowledge, this article is the first documented example of the effects of recombinant human growth hormone (rhGH) therapy on a child with short stature and brachydactyly type C with normal growth hormone secretion in stimulation tests. In this paper, we present the boy's good response to the treatment and the safety of this therapy, as well as a review of the current literature regarding rhGH therapy in children with isolated brachydactyly.