Ehlers-Danlos syndrome

1966 ◽  
Vol 15 (3) ◽  
pp. 273-295
Author(s):  
L. Capotorti ◽  
M. Antonelli
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Signs ◽  
Long Bones ◽  
Muscular Hypotonia ◽  
Ehlers Danlos Syndrome ◽  
Partial Form ◽  
Danlos Syndrome ◽  
Tubular Bones ◽  
Apparently Healthy

SUMMARYThe Authors describe a pedigree including four certain and two probable cases of «Ehlers-Danlos syndrome ». All the affected subjects were born to consanguineous but apparently healthy parents. Of the three main symptoms of the syndrome, the patients presented hyperelasticity of the skin and hyperlaxity of the joints and of the ligaments, while the signs of cutaneous fragility were absent (« partial form » of E.-D. syndrome). In the first two cases it was possible to find some less common aspects of the E.-D. syndrome, such as ectasia of the trachea and of the main bronchi, anomalies regarding the eyes, the teeth and the nails, muscular hypotonia and hypotrophia, and particularly some skeletal manifestations (bending of the long bones, osteoporosis, anomalies of the methaphysis and epiphysis of the tubular bones, vertebral, thoracic and pelvic deformations).The Authors emphasize the importance of these less common aspects of the E.-D. syndrome, and the similarity between these clinical signs and those found in other « heritable disorders of the connective tissue ».The type of inheritance in this family (autosomal recessive) is discussed, in comparison to the commoner type (autosomal dominant) of inheritance of the E.-D. syndrome.

scholarly journals EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

1980 ◽  
Vol 73 (3) ◽  
pp. 180-186 ◽  
Author(s):  
F M Pope ◽  
A C Nicholls ◽  
P M Jones ◽  
R S Wells ◽  
D Lawrence
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Dominant Form ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Autosomal Dominant Form ◽  
Danlos Syndrome ◽  
Biochemical Features

Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.

scholarly journals Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

2014 ◽  
Vol 100 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Glenda Sobey
Keyword(s):  
Genetic Basis ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
Connective Tissue Disorders ◽  
Internal Organs ◽  
Ehlers Danlos Syndrome ◽  
Starting Point ◽  
Life Threatening ◽  
Danlos Syndrome

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.

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder

2008 ◽  
Vol 25 (3) ◽  
pp. 278-287 ◽  
Author(s):  
Hassan M. B. Sulh ◽  
Beat Steinmann ◽  
Velidi H. Rao ◽  
Gertrud Dudin ◽  
Joseph Abu Zeid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

scholarly journals Classic Ehlers–Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father

2018 ◽  
Vol 08 (02) ◽  
pp. 069-072
Author(s):  
Paushpala Sen ◽  
Merlin Butler
Keyword(s):  
Heart Failure ◽  
Cardiac Transplantation ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Gene Variant ◽  
In Silico Prediction ◽  
Ehlers Danlos Syndrome ◽  
Joint Dislocations ◽  
High Conservation ◽  
Danlos Syndrome

AbstractWe report a 13-year-old male patient with severe orthopedic problems including features of a connective tissue disorder and a heterozygous c.305T > A variant found within exon 3 of the autosomal dominant collagen (COL5A1) gene causing the classic Ehlers–Danlos syndrome. This variant has not been reported previously and identified as having an unknown clinical significance but classified as trending damaging per in silico prediction with high conservation among species. Our patient's father had the same gene variant and similar features of stretchable skin, easy bruising, and multiple joint dislocations. The father had unexplained heart failure requiring cardiac transplantation at 43 years of age.

scholarly journals Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

2008 ◽  
Vol 82 (6) ◽  
pp. 1290-1305 ◽  
Author(s):  
Cecilia Giunta ◽  
Nursel H. Elçioglu ◽  
Beate Albrecht ◽  
Georg Eich ◽  
Céline Chambaz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Zinc Transporter ◽  
Transporter Gene ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Ehlers-Danlos Syndrome (EDS) : A Common and often Disregarded Cause of Serious Gastrointestinal Complications in Children and Adults

2021 ◽  
Vol 9 (8) ◽  
Author(s):  
Claude Hamonet ◽  
Mickael Delarue ◽  
Jeremie Lefevre ◽  
Jacques Rottembourg ◽  
Jean-David Zeitoun
Keyword(s):  
Connective Tissue ◽  
Clinical Signs ◽  
Hereditary Disease ◽  
Clinical Expression ◽  
Ehlers Danlos Syndrome ◽  
Gastrointestinal Complications ◽  
Know How ◽  
The Family ◽  
Gastric Reflux ◽  
Danlos Syndrome

Ehlers-Danlos is a hereditary disease of the whole connective tissue initially described by dermatologists (Tscherchnogobov Moscow 1892, Ehlers, Copenhagen, 1900, Danlos, Paris, 1908). They emphasized the joint hyperlaxity and stretchiness of the skin which has long summed up the clinical expression of this entity. In recent decades, many other manifestations have been described and gradually identified, mainly by rheumatologists (Grahame, London, 1960). Several of them concern the digestive tract, mainly gastric reflux and constipation. They can be the cause of serious accidents: bronchial flooding by gastric reflux or aspiration, intestinal obstruction, hernial constriction, eventration, intestinal rupture, peritonitis of vesicular or appendicular origin, hemorrhages. It is important that gastroenterologists know how to link these manifestations to their etiology in order to adapt treatments, prevent iatrogenic accidents and direct the patients towards the treatment of other manifestations of Ehlers-Danlos disease. Nine clinical signs, including digestive manifestations, allow diagnosis by their significant grouping. The proof of hereditary origin is based on the identification of other identical cases in the family,, even if they are paucisymptomatic. A person affected by the disease systematically transmits the disease to all his children. We have verified this in all our patients.

scholarly journals Familial Hypoparathyroidism with Pregnancy- Challenging Issue for Patient as well as for Physician

1970 ◽  
Vol 6 (2) ◽  
pp. 113-115
Author(s):  
MMSU Islam ◽  
S Mubin ◽  
MN Sarker ◽  
DS Ahmed ◽  
RC Barman ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Calcium Supplementation ◽  
Clinical Signs ◽  
Calcium Sensing Receptor ◽  
Healthy Baby ◽  
Calcium Sensing ◽  
Activating Mutation ◽  
Serum Ionized Calcium ◽  
Key Words Hypoparathyroidism

Familial hypoparathyroidism is a rare cause of hypoparathyroidism. It may be x-linked recessive, autosomal dominant or autosomal recessive. In autosomal dominant hypoparathyroidism there is activating mutation of the calcium sensing receptor leading to inhibition of Parathormone (PTH) secretion at inappropriately low serum ionized calcium level. The disease often manifests in the first decade but may appear later. Clinical signs primarily involving neuromuscular disturbances including generalized seizure. Management of pregnancy in hypoparathyroidism is challenging as both under treatment and over treatment is dangerous for fetus. Treatment of hypoparathyroidism in pregnancy includes combination of oral calcium supplementation with calcitriol with an aim to keep serum calcium within normal range. Here we discussed a case of 21 year pregnant lady with familial hypoparathyroidism with successful delivery of a healthy baby. Key words: Hypoparathyroidism; Hypocalcaemia; Hyperphosphataemia; Epilepsy. DOI: http://dx.doi.org/10.3329/fmcj.v6i2.9215 FMCJ 2011; 6(2): 113-115

Sign in / Sign up

Export Citation Format

Share Document