the first report of robinow syndrome in iran and literature review

نویسندگان

zohreh kavehmanesh department of pediatrics, faculty of medicine, baqiyatallah university of medical sciences, tehran, iran

ali reza shafiee student research committee, baqiyatallah university of medical sciences, tehran, ir iran; student research committee, baqiyatallah hospital, molasadra street, vanak place, tehran, ir iran. tel: +98-9192525889, fax: +98-2181264354

چکیده

introduction robinow syndrome (rs) is an infrequent genetic condition that is characterized by a dysmorphic face, dental anomaly, short stature, mesomelic limb shortening, hand and foot anomalies, and hypoplastic genitalia. the robinow syndrome has been reported from the arab countries and other asian countries, but has not been reported in iranian population so far. case presentation a new born (one day old) infant that had the signs of robinow syndrome. discussion we describe an iranian new born infant with robinow syndrome signs in order to improve the science and epidemiology related to this disorder.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The First Report of Robinow Syndrome in Iran and Literature Review

Zohreh Kavehmanesh , Ali Reza Shafiee 2,* 1Department of Pediatrics, Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran 2Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, IR Iran *Corresponding author: Ali Reza Shafiee, Student Research Committee, baqiyatallah hospital, Molasadra Street, Vanak Place, Tehran, IR Iran. Tel: +98-9192525889...

متن کامل

Robinow Syndrome: A Rare Case Report and Review of Literature

Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessi...

متن کامل

the survey of the virtual higher education in iran and the ways of its development and improvement

این پژوهش با هدف "بررسی وضعیت موجود آموزش عالی مجازی در ایران و راههای توسعه و ارتقای آن " و با روش توصیفی-تحلیلی و پیمایشی صورت پذیرفته است. بررسی اسنادو مدارک موجود در زمینه آموزش مجازی نشان داد تعداد دانشجویان و مقاطع تحصیلی و رشته محل های دوره های الکترونیکی چندان مطلوب نبوده و از نظر کیفی نیز وضعیت شاخص خدمات آموزشی اساتید و وضعیت شبکه اینترنت در محیط آموزش مجازی نامطلوب است.

First Case Report of Extensor Digitorum Brevis Manus (Edbm) in Iran and Literature Review

During the dissection of a fifty-years old male cadaver with normally fined, we observed a rare variation in the dorsum of its hands in both sides. This variation was abnormal extensor digitorum brevis manus muscle (EDBM), which originated from the dorsum of wrist and inserted to the u]nar side of the index tendon of extensor digitorum muscle. In this case, extensor indicis muscle was absent. I...

متن کامل

efl students gender and socioeconomic status: the use of politeness strategies in the first and second languages

within the components of communicative competence, a special emphasis is put on the “rules of politeness,” specifically the politeness strategies (brown and levinson, 1978) that speakers deploy when performing the request speech act. this is because the degree of imposition that making a request places upon one’s interlocutor(s) has been seen to be influenced by several factors among which, as ...

Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran

Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females. It is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary in different people. We report a 14-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testi...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید


عنوان ژورنال:
thrita

جلد ۲، شماره ۴، صفحات ۸۴-۶

کلمات کلیدی

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023