s-j syndrome is a rare autosomal recessive disorder of short stature, blepharophimosis, puckerd mouth, myotonia, muscular weakness, pectus carinatum and stiff joints. case report: first case: n.1. a boy aged 7 years. his main abnormalities included puckered lip, blephharophimosis, muscular hypertrophy and weakness, pectus carinatum, short stature, shoulder joint limitation and myopia. myotonic ...

introduction h syndrome (omim 612391) is an autosomal recessive disease with some features such as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia. case presentation a 17-year-old boy with hyperpigmented, hypertrichotic and indurated seborrheic keratosis-like cu...

BACKGROUND The European Quality of Life in Short Stature Youth (QoLISSY) is a novel condition-specific instrument developed to assess health related quality of life (HrQoL) in children/adolescents with short stature from patient and parent perspectives. Study objective was to linguistically validate and psychometrically test the American-English version of the QoLISSY instrument. METHODS Upon...

OBJECTIVE Our objective was to report and describe a case of psychosocial short stature in an adolescent girl with psychotic features. Psychosocial short stature is a rare condition in which emotional stress or deprivation in childhood profoundly reduces growth, leading to persistent short stature. This disorder is variably known as psychosocial dwarfism, hyperphagic short stature or maternal d...

BACKGROUND Short stature is sometimes seen in children with atopic dermatitis (AD); however, the topic has never been studied systematically. OBJECTIVE The aim of this study was to show whether AD itself affects stature in children and to evaluate the influence of other relevant factors such as genetic background, diet restrictions, and sleep disturbance on the stature of children with AD. ...

BACKGROUND Pre-eclampsia shares a number of risk factors with cardiovascular disease (CVD). Women with recurrent pre-eclampsia or pre-eclampsia early in pregnancy reportedly have an increased long-term risk of CVD. Short stature is a risk factor for CVD but has rarely been examined in relation to pre-eclampsia. METHODS We used data from 59 968 singleton live births in the Danish National Birt...

BACKGROUND/AIMS In addition to genome-wide association studies (GWAS), height-associated genes may be uncovered by studying individuals with extreme short or tall stature. METHODS Genome-wide analysis for copy number variants (CNVs), using single nucleotide polymorphism (SNP) arrays, was performed in 49 index cases born small for gestational age with persistent short stature. Segregation anal...

BACKGROUND People from lower socioeconomic groups have a higher risk of mortality. The impact of low socioeconomic status on survival among older adults with dementia and depression remains unclear. AIMS To investigate the association between socioeconomic status and mortality in people with dementia and late-life depression in China. METHOD Using Geriatric Mental Status - Automated Geriatr...

................................................................................................................................................................................ 4 Introduction ........................................................................................................................................................................... 6 Characterization..................