Common Maternal Genetic Syndromes III: Ehlers-Danlos Syndrome

2020 ◽  
Author(s):  
Alex C. Vidaeff
Keyword(s):  
Genetic Screening ◽  
Perinatal Complications ◽  
Genetic Syndromes ◽  
New Classification ◽  
Ehlers Danlos Syndrome ◽  
Risk Pregnancy ◽  
Pregnancy And Delivery ◽  
Obstetric Management ◽  
Danlos Syndrome

The purpose of this work is to improve the basis upon which advice on pregnancy is given to women with Ehlers-Danlos syndrome (EDS) and to address issues of obstetric management by drawing upon the accumulated world experience. Although, overall, pregnancy in EDS is well tolerated, with good outcomes, the rate of maternal and perinatal complications is higher and every pregnancy in these women remains a high-risk pregnancy. The obstetrical outcomes are influenced by the type of EDS and the specific underlying abnormalities. The older numeric classification of EDS has been largely abandoned and it was replaced by the 2017 descriptive international classification. Based on this new classification, we are briefly describing the most common EDS types and consider the management implications imposed by pregnancy and delivery.   This review contains 2 figures, 1 table, and 36 references. Keywords: Ehlers-Danlos syndrome, EDS types, pregnancy, delivery, EDS classification, counseling, genetic screening, neonatal outcomes 

scholarly journals Pregnancy and Delivery in Ehlers-Danlos Syndrome (Hypermobility Type): Review of the Literature

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Indranil Dutta ◽  
Helen Wilson ◽  
Odiri Oteri
Keyword(s):  
Cesarean Section ◽  
Obstetric Complications ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Management Guidelines ◽  
Vaginal Deliveries ◽  
Pregnancy And Delivery ◽  
Obstetric Management ◽  
Maternal And Neonatal Outcomes ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders which are divided into various distinguishable phenotypes. The type of EDS determines the potential obstetric complications. Due to the spectrum of clinical manifestation and overlap between phenotypes, there are no standardised obstetric management guidelines. Existing literature illustrates different obstetric management in hypermobility type of EDS, including uneventful term vaginal deliveries as well as preterm cesarean section deliveries. This paper discusses obstetric management of a woman with EDS hypermobility type. Cesarean section was deemed the most appropriate delivery method in this patient due to the possible complications including risk of joint dislocation and pain morbidity. No obstetric complications were experienced, and good maternal and neonatal outcomes were achieved.

The Ehlers–Danlos Syndromes

2020 ◽  
pp. 26-29
Author(s):  
Bernadette Riley
Keyword(s):  
Clinical Diagnosis ◽  
Family Physician ◽  
Classification System ◽  
Genetic Basis ◽  
International Classification ◽  
Ehlers Danlos Syndrome ◽  
Diagnosis Criteria ◽  
Danlos Syndrome

An Osteopathic Family Physician will encounter hypermobile patients. Hypermobility is a symptom of many of the subtypes of the Ehlers Danlos Syndromes (EDS). With the updated classification system (the 2017 International Classification of the Ehlers-Danlos Syndromes) it is important for the osteopathic family physician to become familiar with the EDS patient. The classification system identifies 13 subtypes of EDS.1 Of these 13, 12 have a recognized genetic basis. Hypermobile EDS (hEDS) has a clinical diagnosis criteria checklist (Figure 1, page 29). There is opportunity for the osteopathic family physician community to help diagnose and treat the EDS population. This article seeks to have the osteopathic family physician become familiar with the Ehlers-Danlos Syndrome, and provide an overview of all of the subtypes of EDS, including hEDS and discusses signs, symptoms, and risks associated with the syndrome.

Hereditary disorders of connective tissue

2018 ◽  
pp. 577-594
Author(s):  
Gavin Clunie ◽  
Nick Wilkinson ◽  
Elena Nikiphorou ◽  
Deepak R. Jadon
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Marfan Syndrome ◽  
Genetic Information ◽  
Hereditary Diseases ◽  
Ehlers Danlos Syndrome ◽  
Hereditary Disorders ◽  
Spectrum Disorders ◽  
Danlos Syndrome

The Oxford Handbook of Rheumatology, 4th edition, includes a chapter on the hereditary diseases of connective tissue. Of importance, up-to-date genetic information and classification of subtypes of osteogenesis imperfecta is reviewed. There is a summary of a broad range of diseases of connective tissue including Marfan syndrome, Stickler disease, and arthrogryposis—conditions encountered occasionally by the rheumatologist. The chapter details the new 2017 criteria for Ehlers–Danlos syndrome and outlines the new classification for the hypermobility spectrum disorders and the distinction between generalized, localized, and regional hypermobility and hypermobility Ehlers–Danlos syndrome, both in adults and in children.

scholarly journals A case report of obstetrical management of a pregnancy with hypermobile Ehlers–Danlos syndrome and literature review

2013 ◽  
Vol 6 (2) ◽  
pp. 80-82 ◽  
Author(s):  
H Khalil ◽  
J Rafi ◽  
T T Hla
Keyword(s):  
Case Report ◽  
Connective Tissue Disorders ◽  
Maternal Complications ◽  
Successful Pregnancy ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Obstetric Management ◽  
Maternal And Neonatal Outcomes ◽  
Obstetrical Management ◽  
Danlos Syndrome

We present a case report of a successful pregnancy outcome in a woman diagnosed with Ehlers–Danlos syndrome (EDS) hypermobility type or type III. EDS is a group of connective tissue disorders that has a common genotypic defect, but heterogeneous phenotypic presentations. The variation in EDS manifestations can result in moderate to severe effects on life-expectancy for some types. A number of studies and a review of the literature indicate that generally in pregnant women with EDS, maternal and neonatal outcomes are favourable. However, in EDS type IV, pregnancy can be associated with serious maternal complications. Therefore, obstetrical management should be individualized. This paper discusses the obstetric management of a patient with EDS hypermobility type and compares it to other studies in the literature.

scholarly journals Surgical-orthodontic treatment in patients with Ehlers–Danlos syndrome: a report of two familial cases

2020 ◽  
Vol 26 (1) ◽  
pp. 5
Author(s):  
Hippolyte Chapuis ◽  
Arnaud Peyrolade ◽  
Ahmed Féki ◽  
François Clauss ◽  
Fabien Bornert
Keyword(s):  
Orthodontic Treatment ◽  
Clinical Symptoms ◽  
Genetic Mutation ◽  
Therapeutic Approaches ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Familial Form ◽  
Danlos Syndrome

Introduction: Ehlers–Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders that affect the synthesis and structure of collagen in a ubiquitous manner. The clinical presentation can vary according to the associated genetic mutation. The 2017 international classification of EDS describes 13 types of EDS. Observation: The first part of this paper describes the surgical-orthodontic treatment for two sisters affected by a common and familial form of EDS, with a follow-up period of 8 years. The main symptoms were agenesis, impacted teeth, and delayed eruptions. Discussion: The second part proposes a review of oro-dental manifestations and discusses therapeutic approaches for patients with EDS. Conclusion: EDS can affect the oro-dental region with numerous consequences. Recognition of clinical symptoms and radiological signs is essential to provide appropriate dental care. Moreover, complete clinical and radiological assessment can allow early diagnosis of EDS.

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