نتایج جستجو برای: van ghogh syndrome
تعداد نتایج: 686720 فیلتر نتایج به سال:
BACKGROUND: Children with primary hypothyroidism usually presents delay in linear growth and pubertal development, but rare instances they can present precocious puberty. In 1960, presentation of puberty was first reported labelled as Van Wyk Grumbach syndrome (VWGS). We report a case VWGS six years old girl. CASE DESCRIPTION: A girl presented accompanied by short stature delayed bone age due t...
Van der Woude syndrome or lip pits is a rare genetic autosomal dominant affection that represents the first cause of syndromic cleft and palate. Lower associated not with palate characteristic in this syndrome. The treatment surgical can be very challenging since aesthetic good results hard to achieve We report familial case as only manifestation.
Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardio...
Title: Small volume plasma exchange for Guillain-Barré syndrome in resource poor settings: a safety and feasibility study Authors: Md Badrul Islam ([email protected]) Zhahirul Islam ([email protected]) Shafiqur Rahman ([email protected]) Hubert Endtz ([email protected]) Margreet Vos ([email protected]) Mathieu der Jagt ([email protected]) Pieter van Doorn (p.a.v...
Van der Woude syndrome is an autosomal dominant disease characterized by lower lip pits with or without cleft lip and/or cleft palate. The lip pits commonly have salivary glands that drain into them, which leads to salivary flow from the lip pits. Lip pits may be associated with submucosal palatal cleft, velopharyngeal insufficiency, or genitourinary or cardiovascular anomalies. The pits are tr...
The discovery of the Guillain-Barré syndrome and related disorders Richard Hughes et al., London, United-Kingdom Pathophysiology of autoimmune polyneuropathies Marinos C. Dalakas, Athens, Greece Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS) Pieter A. van Doorn, Rotterdam, The Netherlands Chronic inflammatory demyelinating polyradiculoneuropathy Peter Y.K. Van den Bergh, et...
Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in combination with childhood amyotrophic lateral sclerosis. Mutations in the gene, SLC52A3 (formerly C20orf54), one of three known riboflavin transporter genes, have recently been shown to underlie a number of severe cases of Brown-Vialetto-Van ...
Van Wyk-Grumbach Syndrome (VWGS) is presented by juvenile hypothyroidism, delayed bone age and isosexual precocious puberty. All of the features will be reversed with treatment underlying thyroid hormone deficiency. It has been described, a 3- year-old girl Down who per vaginal bleeding. Physical examination showed typical morphologic hypothyroidism. Pubertal developments in tanner stages were:...
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