welcome to oneEDSvoice
- a positively charged Ehlers Danlos Syndrome community.- join today!
- login
Ehlers-Danlos syndrome: How to Diagnose and When to Perform Genetic Tests
source: Archives of Disease in Childhood
year: 2015
authors: Sobey G
summary/abstract:The term Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.
organization: EDS National Diagnostic Service, Sheffield Children's NHS Foundation TrustDOI: 10.1136/archdischild-2013-304822
read more full text source
expertly curated content related to this topic
-
John E. Mitakides, DDS, DAACPDr. Mitakides is a leading expert in cra...
-
Mutations in B3GALT6, Which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Conne...Proteoglycans (PGs) are a major componen...
-
Ehlers-Danlos Syndrome Presenting with Torsion of StomachB R, woman aged 68 History: Presented i...
-
Kevin Muldowney, MSPTKevin Muldowney is the owner of Muldowne...
-
Fraser C. Henderson Sr. , MDDr. Fraser C. Henderson Sr. is an except...
-
Dr. Raju KhubchandaniDr. Raju P. Khubchandani is the Director...
-
Classifications of EDS: Hypermobility Typehttps://www.youtube.com/watch?v=nSO1Sut1...