نتایج جستجو برای: radial polydactyly

تعداد نتایج: 62619  

2015
Kewal Arunkumar Mistry Rohit Bhoil Ankitkumar Patel

Joubert's syndrome is indeed a rarity in clinical and radiological practice with a myriad of accompanying anomalies. Figure 1. Clinical photos of the patient showing post-axial polydactyly in the upper and lower limbs (A, B) and broad flat nasal bridge (C). Herein we present a case of an eight-month-old female infant who presented with delayed milestones, nystagmus and post-axial polydactyly (F...

Journal: :Radiology Case Reports 2019

Journal: :Journal of Hand Surgery 1993

Journal: :Indian Journal of Dermatology, Venereology, and Leprology 2010

2004
Sukru Ulusoy Kubra Kaynar Semih Gul Kubilay Ukinc

Objective: To describe a case of Bardet-Biedl syndrome involving renal failure and retinal dystrophy. Case Presentation and Intervention: A 50-year-old female patient presented to the emergency service with uremic symptoms and metabolic acidosis. Polydactyly, retinitis pigmentosa, obesity, strabismus, nistagmus and renal failure were found. Because she had end-stage renal failure, hemodialysis ...

2016
Bin Wang Yutao Diao Qiji Liu Hongqiang An Ruiping Ma Guosheng Jiang Nannan Lai Ziwei Li Xiaoxiao Zhu Lin Zhao Qiang Guo Zhen Zhang Rong Sun Xia Li

Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD...

Journal: :Journal of medical genetics 1988
M L Merrer M L Briard S Girard N Mulliez C Moraine M C Imbert

We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly...

2012
Chi-Hung Yen Pak-Cheong Ho Leung-Kim Hung

Surgery for thumb polydactyly is a commonly performed orthopaedic procedure in Asia Pacific region. Despite extensive publications on topical dressing methods and dressing materials in paediatric wounds, there is no single design that affords a secure and yet comfortable post-operative wound dressing for thumb polydactyly. We have devised a new dressing method, which can easily be fabricated fo...

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