815 Neonatal Presentation of Ehlers-Danlos Type Vii: Diagnostic Considerations

Abstract

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective-tissue disorders characterized by hypermobility, tissue fragility and skin abnormalities. Eleven subtypes have been characterized based on clinical features and molecular genetic abnormalities. EDS type VII (arthrochalasia type EDS) is characterized by bilateral congenital dislocation of the hips, severe generalized joint hypermobility with multiple dislocations, muscular hypotonia and discrete skin abnormalities. The diagnosis of type VII-EDS is of importance in the neonatal period because of consequences for mobility in later life. However, the differential diagnosis may be difficult because of overlap with other hypermobility syndromes. In addition, the significant hypotonia may direct the paediatrician towards neuromuscular disorders. In this report we describe three patients who, in retrospect, presented with the classical neonatal clinical features of EDS type VII. Before confirmation of the diagnosis, several differential diagnoses were considered. Diagnosis of EDS type VII was confirmed by mutation analysis showing a de novo mutation in COL1A2, resulting in skipping of exon 6 leading to the production of abnormal procollagen. This leads to defective collagen synthesis which is responsible for the clinical features. For physicians treating patients with EDS type VII achieving mobility for the patient is the greatest challenge. The prognosis regarding the achievement of independent walking is poor due to recurrent luxations of nearly all joints in severe cases. We summarize the literature and present some guidelines for the paediatrician.