King-Denborough Syndrome: Report of a Family

Abstract

We report a case of an Azorean family with the diagnosis of the King-Denborough syndrome. Both mother and the two siblings present all the characteristic clinical findings of this syndrome – facial dysmorphias (with palpebral ptosis, malar hypoplasia, arched palate and micrognathia), musculoskeletal abnormalities (bell-shaped chest, pectus excavatum and lumbar hyperlordosis), diminished lower limbs strength with associated hyporeflexia and susceptibility to malignant hyperthermia. The diagnosis was possible after the youngest member of the family, now a 4-year-old girl, was born and referred to in-hospital consultation, due to the described constellation of dysmorphias and delay in motor development. The aim of this article is to raise awareness to the importance of the correct investigation approach of a congenital myopathy, and in this specific case, to the importance of an early diagnosis that can be crucial to prevent a mostly fatal outcome for these patients.