“Gestalt diagnosis” for children with suspected genetic syndromes

نویسندگان
چکیده

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

“Gestalt diagnosis” for children with suspected genetic syndromes

Gestalt identification is the process by which healthcare practitioners actively organize clinical perceptions into specific diagnostic ideas. This implies that clinicians, in particular geneticists, have the ability to quickly generate diagnostic hypotheses in absence of complete information, simply on the basis of combination of specific facial dysmorphisms or particular elements of the clini...

متن کامل

Cytogenetic analysis of children with suspected genetic disorder.

OBJECTIVES To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder. MATERIALS AND METHODS Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformati...

متن کامل

Diabetes mellitus in children and adolescents with genetic syndromes.

BACKGROUND Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), B...

متن کامل

Psychiatric features in children with genetic syndromes: toward functional phenotypes.

Neurodevelopmental disorders with identified genetic etiologies present a unique opportunity to study gene-brain-behavior connections in child psychiatry. Parsing complex human behavior into dissociable components is facilitated by examining a relatively homogenous genetic population. As children with developmental delay carry a greater burden of mental illness than the general population, fami...

متن کامل

Gender-Related Differences in Patients Presenting with Suspected Acute Coronary Syndromes: Clinical Presentation, Biomarkers and Diagnosis.

OBJECTIVES Gender differences in patients presenting with suspected acute coronary syndromes (ACS) have not yet been fully characterized. The aim of this study was to assess gender-related disparities in clinical profiles, biomarkers and diagnoses of patients with suspected ACS. METHODS This single-centre, prospective cohort study included 377 consecutive patients presenting with suspected AC...

متن کامل

ذخیره در منابع من


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

ژورنال

عنوان ژورنال: Italian Journal of Pediatrics

سال: 2015

ISSN: 1824-7288

DOI: 10.1186/1824-7288-41-s2-a16