Ehlers-Danlos Syndrome in a Newborn Mistaken for Edwards Syndrome

Abstract

The Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder with special characteristics such as joint hypermobility, tissue fragility and skin abnormalities. The recently classification divide six subtypes. Dermatosparaxis types of these are recessively inherited connective tissue disorders and caused by a deficient function of procollagen I N-proteinase (ADAMTS2). In this report, craniofacial features were found such as micrognathia, narrow forehead covered with dense hair, broad nasal root and narrow upper lip. Clenched fists and rocker bottom feet were found which are typically shown at patients of Edwards syndrome. We report a first case of a newborn with EDS of Dermatosparaxis type confirmed by microarray test in Korea.