Clinical Phenotypes and Molecular Characterisation of Three Patients with Ehlers-Danlos Syndrome Type VII | oneedsvoice

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Clinical Phenotypes and Molecular Characterisation of Three Patients with Ehlers-Danlos Syndrome Type VII

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source: Journal of Medical Genetics

year: 2000

authors: Nicholls AC, Sher JL, Wright MJ, Oley C, Mueller RF, Pope FM

summary/abstract:

The Ehlers-Danlos syndrome (EDS) is a diverse group of heritable connective tissue disorders whose primary clinical features include soft, hyperextensible skin, dystrophic scarring, easy bruising, and joint hypermobility. An initial classification defined 10 distinct types of EDS, but with recent advances in our understanding of the molecular pathology a revised nosology with six types has been proposed. In the original classification, EDS type VII, a subgroup characterised by extreme joint laxity, was divided into three subtypes, EDS VIIA, VIIB, and VIIC. In the revised nosology EDS VIIA and B are combined as the arthrochalasia type of EDS and, because of significant differences in the clinical phenotypes and molecular pathology, are separated from EDS VIIC, which is now called the dermatosparaxis type of EDS. EDS VIIA and VIIB (arthrochalasia type) are autosomal dominant disorders and the patients present with bilateral congenital hip dislocations, extreme multiple joint laxity, and recurrent subluxations of both large and small joints. Thoracolumbar scoliosis, short stature, and muscle hypotonia are common features. EDS VIIC (dermatosparaxis type) is a rare autosomal recessive form and the patients present with generally lax, extremely fragile, redundant skin analogous to the animal disease dermatosparaxis, umbilical or inguinal hernias, blue sclerae, numerous palmar creases, and micrognathia. They develop joint laxity but without subluxations.

organisation: University of Cambridge; Cheviot & Wisbech NHS Trust, Wansbeck General Hospital; Royal Victoria Hospital; St James's University Hospital; University Hospital of Wales

DOI: 10.1136/jmg.37.11.e33

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