نتایج جستجو برای: klippel

تعداد نتایج: 1232  

2010
Rebecca Billingham

syndrome is a rare congenital syndrome involving enlarged veins and arteries, limb hypertrophy and capillary malformations. In 1900, French physicians, Klippel and Trenaunay, first described what became known as Klippel-Trenaunay syndrome after two patients presented with a triad of symptoms — port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity (Klippel ...

2015
Ramush Bejiqi Ragip Retkoceri Hana Bejiqi Naim Zeka

First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from th...

2017
Linda Kundzina Sandra Lejniece

BACKGROUND Klippel-Trenaunay-Weber syndrome is a rare syndrome; unfortunately, very few studies of the connection between hypersplenism, nephrotic syndrome, and Klippel-Trenaunay-Weber syndrome have been published. CASE PRESENTATION We report the case of a 40-year-old white man with a typical clinical presentation of Klippel-Trenaunay-Weber syndrome, including "port-wine stains," varicose vei...

2015

Submit Manuscript | http://medcraveonline.com sometimes it may occur as an autosomal dominant trait [1,2]. Klippel-Trenaunay-Weber Syndrome is a cutaneous vascular malformation affecting the development of blood vessels, soft tissues and bones [3]. This is a non-heritable disorder which is present at birth and usually involves lower limb but may involve more than one limb and a portion of the t...

Journal: :Canadian journal of surgery. Journal canadien de chirurgie 2005
Elyazid Mouhsine Nermin Halkic Raffaele Garofalo Sophia Taylor Nicolas Theumann Louis Guillou Pierre François Leyvraz

Klippel–Trenaunay syndrome has 3 essential features: cutaneous hemangiomas, varicose veins and hypertophy of the involved limbs in length or girth, or both. Both bones and soft tissue are usually affected by the hypertrophy. The arteriovenous malformation effects are polysystemic. Patients with this syndrome are at risk of thromboembolic disease. Baskerville’s report shows that 7 (14%) of 49 pa...

Journal: :Journal of medical genetics 1982
E O Da Silva

In 1912, Klippel and Feill reported the first clinical details and necropsy findings of a syndrome characterised by the triad short or absent neck, severe limitation of head movement, and low posterior hairline. An Egyptian mummy (from 500 BC) is the oldest subject in whom Klippel-Feil syndrome has been seen.2 Another interesting observation is the similarity between the figure of an old man de...

2015

In 1912, Klippel and Feil (1) first reported on a patient with a short neck, a low posterior hairline, and severe restriction of neck movements due to complete fusion of the cervical spine, the classic clinical triad which is the hallmark of Klippel-Feil syndrome (KFS). It is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Mutations in the GDF6 and GDF3 genes can cause KFS (2). ...

2016
Eula Plana Tetangco Hafiz Muhammad Sharjeel Arshad Rogelio Silva

A 23-year-old female with Klippel-Trenaunay syndrome presented with abdominal pain and severe anemia. Colonoscopy revealed diffuse venous congestion extending circumferentially from the midsigmoid to the rectum, with multiple large varicosities. This case emphasizes that Klippel-Trenaunay syndrome may have visceral manifestations beyond the classic presentation, which can be a significant sourc...

2014
Milinda Withana Chaturaka Rodrigo Mitrakrishnan Chrishan Shivanthan Sachini Warnakulasooriya Manu Wimalachandra Lallindra Gooneratne Senaka Rajapakse

INTRODUCTION Klippel-Trenaunay syndrome is a rare congenital mesodermal abnormality characterized by bone and soft tissue hypertrophy, extensive hemangioma and venous abnormalities. We report the case of a patient with two additional rare clinical manifestations in the background of Klippel-Trenaunay syndrome, namely, acanthocytosis and splenic and retroperitoneal lymphangioma. CASE PRESENTAT...

Journal: :Indian pediatrics 2014
Priya Sreenivasan Sobha Kumar K K Santhosh Kumar

BACKGROUND Klippel-Trenaunay syndrome is a non-heritable venous malformation with bone and soft tissue hypertrophy and cutaneous nevi. CASE CHARACTERISTICS Neonate with Klippel Trenaunay syndrome born to a mother with past history of Gestational trophoblastic neoplasm. OBSERVATION Antenatally, a fetal vascular malformation was identified ultrasonologically at 29 weeks gestation. Acute myelo...

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