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Grand Rounds: Heritable Connective Tissue Disorders

05-07-2021

By Carrie Costin, MD , Director, Genetic Center, Akron Children's Hospital, Akron, OH

Genetics

More about Carrie Costin, MD


Objectives (Educational Content) :

1. Differentiate the clinical manifestations of common heritable connective tissue disorders. 2. Recognize the clinical features and family history findings that warrant a genetics referral. 3. Summarize the ongoing management and treatment of common heritable connective tissue disorders.

Target Audience:

General pediatricians, family physicians, nurse practitioners, physician assistants, social workers, psychologists and nurses

Identified Gap:

New and improved methods of recognizing and treating pediatric patients with connective tissue disorder.

Estimated Time to Complete the Educational Activity:

1 hour

Expiration Date for CME Credit:

05-06-2022

Method of Physician Participation in the Learning Process:

The learner will view the presentation, successfully complete a post-test and complete an activity evaluation.

Evaluation Methods:

All learners must successfully complete a post-test, as well as an activity evaluation, to claim CME credit.

Disclosure:

Dr. Costin has indicated that she has no relevant financial or other relationships with any commercial interests.

Accreditation Statement:

Children’s Hospital Medical Center of Akron is accredited by the Ohio State Medical Association to provide continuing medical education for physicians.

CHMCA designates this enduring material activity for a maximum of 1.0 AMA PRA Category 1 Credit TM.  Physicians should only claim the credit commensurate with the extent of their participation in the activity.
 

Bibliography:

Colombi M, Dordoni C, Chiarella N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/Ehlers Danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genetc. 2015 Mar;169C(1):6-22.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Guinta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes, Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.

Meester JAN, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg. 2017 Nov;6(6):582-594.