Diagnostic challenges in a case of short rib polydactyly syndrome in limited resource setting: case report

Abstract

We report on a Congolese stillbirth with clinical and radiologic presentation consistent with short-rib polydactyly syndrome born from unrelated parents caring different private mutations each, in the same gene as well as in different genes. From research perspectives, this first case ever in the region could have brought some insights on genetics of short-rib thoracic dysplasia in Congo as previously evidenced in other genetic conditions.