A Case Report of Ehlers-Danlos and Goldenhar Syndromes
نویسندگان
چکیده
A 23year-old Thai female presented with skin laxity and delayed wound healing. Physical examination revealed asymmetry of face and hypertelorism of both eyes. Microtia of right ear, right periauricular pit, multiple fish mouth and cigarette paper scars were found. There were hyperextension of elbows and knees, 10 degrees and 15 degrees, respectively, Passive hyperflexion of the 5th finger more than 90 degrees was demonstrated. According to Villefranche’s criteria, she had all major criteria for the diagnosis of Ehlers-Danlos syndrome, classic type. She also had hemifacial microsomia and ocular abnormalities that were compatible with Goldenhar syndrome. To our knowledge, a case of Ehlers-Danlos syndrome associated with Goldenhar syndrome has never been reported. This article presents the case of co-incidence of these two rare syndromes.
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 کاملAn Iranian family with cutis laxa and classic Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) is a heterogenous group of inherited disorders of connective tissue characterized by fragility of the skin and blood vessels, hyperextensibility of the skin and joint hypermobility. Cutis laxa is characteized clinically by lax, pendulous skin and histologically by loss of elastic tissue in the dermis. There are some reports of coexistence of cutis laxa with ot...
متن کاملEhlers-Danlos Syndrome (TYPEI) with Mental Retardation -an Unusual Association (Reports on Two Brothers)
Ehlers Danlos syndrome (EDS) is an inherited connective tissue disease due to impaired collagen metabolism. Joint hypermobility and skin hyper extensibility are the major findings. Six types of EDS are recognized. Type I or Gravis type is characterized by skin hyperextensibility, joint hypermobility, skin splitting autosoml dominancy inheritance, preterm premature rupture of membrane (PPROM) an...
متن کاملAn unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.
Ehlers-Danlos syndrome has been divided into several different types according to the variety and severity of clinical manifestations, and may follow autosomal dominant, autosomal recessive, or X linked patterns of inheritance. Only rarely have chromosome anomalies been seen in patients manifesting phenotypic features of the syndrome and most are considered insignificant. However, one case repo...
متن کامل