Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.
This case report describes a child in whom non-accidental injury was initially suspected, but who was later shown to have autosomal dominant Ehlers-Danlos syndrome (EDS) type IV. Her mother and brother were also type III collagen deficient. This syndrome may be commoner than the small number of reported cases suggested and may sometimes explain previously undiagnosed easy bruising. The importance of recognizing this syndrome is stressed as it may save a great deal of embarrassment, frustration and anger for the family wrongly suspected of causing injury to their child.
D000328:Adult; D002649:Child Abuse; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male