گزارش یک مورد سندرم VAN DER WOUDE
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Van Der Woude Syndrome
Submit Manuscript | http://medcraveonline.com by a mutation to interferon regulatory factor 6 on chromosome I [2]. They describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome [2]. Typical blind fistulas of the lower lip,...
full textVan der Woude syndrome in twins.
This article discusses monozygotic twin patients with Van der Woude syndrome, the most common form of syndromic cleft lip and palate, who have concordant manifestations. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with clinical features, including lower lip sinuses with a cleft lip, cleft palate, or both. Some mutations ha...
full textVan Der Woude Syndrome – A Review
Aim: To review the causes, symptoms, treatment, prevalence and diagnosis of VanDerWoude Syndrome. Objective : This review aims at analysing the genetic defects and facts about this rare disease in human population. Background : VanDerWoude syndrome is an autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both. It is the most common s...
full textگزارش یک مورد جالب سندرم Ellis Van Creveld
Ellis Van Creveld یا دیس‌پلازی کندرواکتودرمال یک بیماری نادر با وراثت اتوزوم مغلوب است که شامل تتراد کندرودیس‌پلازی، دیس‌پلازی اکتودرمال، پلی‌داکتیلی و بیماری مادرزادی قلب است که معمولاً به‌صورت دهلیز منفرد تظاهر می‌کند. کندرودیس‌پلازی در استخوان‌های بلند، شایع‌ترین یافته بالینی است؛ در حالی که آنومالی‌های سیستم عصبی مرکزی و دستگاه ادراری از موارد نادر مرتبط با آن می‌باشد. گزارش مورد یک دختر ب...
full textCongenital lower lip pits (Van der Woude syndrome).
Van der Woude syndrome (VWS) is a rare autosomal dominant disorder that is characterized by a cleft lip and palate with congenital lip pits. This is a report of a case of VWS with sinuses in the lower lip, a cleft in the upper lip, and a supernumerary tooth in the maxilla. The main characteristics of this disorder are discussed. Dental treatment of the patient was performed, but the surgical re...
full textLinkage studies in a pedigree with Van der Woude syndrome.
A kindred segregating for Van der Woude syndrome (VWS) through five generations is described. Biochemical and serological phenotypes at 36 polymorphic marker loci have been determined, of which 27 were informative for linkage analysis to the VWS gene (LIPED 3 computer programme). Lod scores are reported and show exclusion of close linkage for most of the marker loci. Only VWS:Duffy (Fy) resulte...
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Journal title
volume 7 issue 27
pages 92- 94
publication date 1999-03
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