A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report
نویسندگان
چکیده
منابع مشابه
Ehlers-Danlos syndrome: type VI A – kyphoscoliosis; a case report
Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyp...
متن کامل[Ehlers-Danlos syndrome type VII--case report].
We described a 30-year old man with Ehlers-Danlos syndrome type VI, manifested by marked kyphoscoliosis and severe myopia, who was admitted to our department because of chest pain. Abnormalities of stature and joint system along with eye changes, occurred starting from the birth and they aggravated gradually. Signs of increased fragility of the skin blood vessels appeared during childhood. At t...
متن کاملCase Report Ehlers-Danlos Syndrome - Clinical presentation
Two cases of Ehlers-Danlos syndrome (EDS) diagnosed on the basis of their clinical presentation are presented. EDS is a rare genetic disorder involving connective tissue of skin and joints, having a variety of presenting signs and symptoms. There is no specific therapy for this disease but it is important to diagnose it as it may end up in fatal complications.
متن کاملEhlers-Danlos Syndrome Type VIIC: A Mexican Case Report
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or 'human dermatosparaxis' is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, eas...
متن کاملEhlers-Danlos syndrome type IV: anesthetic considerations--case report.
This report describes the anesthetic management of a patient with Ehlers-Danlos syndrome type IV. This is one of the rare genetic disorder which can present both in emergency and as a scheduled surgical case.
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2021
ISSN: 1824-7288
DOI: 10.1186/s13052-021-00984-y