نتایج جستجو برای: fryns

تعداد نتایج: 99  

Journal: :Journal of Evolution of Medical and Dental Sciences 2012

Journal: :Zahedan Journal of Research in Medical Sciences 2019

Journal: :Clinical genetics 2010
J F Mazzeu A M Vianna-Morgante A C V Krepischi A Oudakker C Rosenberg K Szuhai J McGill J Maccraughan H van Bokhoven H G Brunner

To the Editor : Microdeletions at 1q41q42.1 have been described in patients with a variable phenotype that in some cases is suggestive of Fryns syndrome (FS) (1). We have described a similar microdeletion (2) in a boy (hereafter named Patient 1) with clinical features of the dominant form of Robinow syndrome (DRS; 3–5). Here, we report a girl (Patient 2; Fig1a-c) diagnosed as having DRS based o...

Journal: :Molecular syndromology 2016
Mitesh Shetty Jayarama Kadandale Sridevi Hegde

Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal content into the thoracic cavity through an abnormal opening in the diaphragm present at birth. It is a common birth defect with high mortality and morbidity. Submicroscopic deletions of 15q26.1 and 8p23.1 have been reported in several cases of CDH. We studied a total of 17 cases with CDH in pre- and postnatal samples...

Journal: :The West Indian medical journal 1982
E N Barton

Introduction: The Development of the Concept of Personality Disorders The concept of personality disorder dates back to ancient times. In the 5th century B.C., Hippocrates put forward the humoral hypothesis. He defined two typologies: a short and sturdy stature called habitus apolepticus, and a tall and thin stature called habitus phthysicus. He later hypothesized that there are four types of l...

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