نتایج جستجو برای: van wyk grumbach syndrome

تعداد نتایج: 686793  

معموری, غلامعلی, ناصری, فاطمه,

Ellis Van Creveld syndrome or chondroectodermal dysplasia is a rare disease characterized by the triad of postaxial polydactyly, chondrodisplasia of long bones , resulting in acromesomelic dwarfism, and ectodermal dysplasia. In this study , three newborns with this syndrome , consisting of    acromesomelic dwarfism , postaxial bilateral polydactyly , nail hypoplasia...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2017
Shlomo Melmed

Generations of clinicians have been faced with often striking developmental and acquired hormonal syndromes associated with reproductive, growth, and metabolic phenotypes. These syndromes have included ambiguous genitalia, anomalies of sexual development, intersex forms, accelerated or delayed puberty, gigantism, and short stature. Although clinical phenotypes of these disorders have been well-...

Journal: :Journal of obstetrics and gynaecology of India 1976
G K Rastogi M K Sinha S Jayaraman P K Devi

It is now well established that human placenta secretes a protein hormone Human Placental Lactogen (HPL), also referred to as placental Somatomarnmotropin. It shows immunological crossreactivity with pituitary growth hormone and possesses both mammotropi.c and somatotropic effects (Jasiomovich and Maclaren, 1962, Kaplan and Grumbach 1968). This hormone is produced by syncytiotrophoblast layer o...

ALI ANDON PETROSSIANS, MAJID MALEKI,

Ellis-van Creveld syndrome is transmitted as an autosomal recessive trait. This syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large ASD. Patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

Journal: :Indian pediatrics 2004
Faisal Haque S Ameer Ahmad

A six year old child with symmetric polydactyly of both hands and genu valgum deformity was referred for radiographic assessment. On physical examination, there were six digits in both hands with dysplastic finger nails. The upper and lower extremies were shortened out of proportions to the trunk with genu valgum deformity. Radiograph of hands revealed bifid 5th metacarpals and complete duplica...

Journal: :dental research journal 0
shaik sameeulla jayam raviraj suresh dirasantchu suman s. venkata

ellis–van creveld (evc) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. in the present article, we hereby present a case of a 13‑year‑old girl of indian ethnicity with evc syndrome with a remarkable number of classical oral and ...

2017

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,...

2010
Ramachandra Reddy

1K Rajendra, 2TK Ramamurthy, 3K Gopikrishna, 4GV Ramachandra Reddy, 5K Srinivas, 6S Patil 1Postgraduate Student, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 2,4Professor, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 3Senior Lecturer, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Ka...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید