Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in males. It is very difficult to diagnose this disorder in childhood due to absence of significant manifestations before puberty. These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. The boy's height was below the 3rd centile with significant delay in bon...

Bipolar disorders constitute a complex group of recurrent mental illnesses with high prevalence among general population. The current systems of classification, such as CIE–10 and DSM–5, represent a significant advance for their accurate identification. However, there is still a relevant delay on their diagnoses. The present paper describes the more distinctive clinical features of these illnes...

BACKGROUND Anemia is a common accompaniment of cerebral palsy, mental retardation and neurodegenerative disorders. CLINICAL CHARACTERISTICS A 4-year-old boy with chronic megaloblastic anemia, global developmental delay, seizures, intracranial calcification and new onset neuro-regression. OBSERVATION A diagnosis of hereditary folate malabsorption was made, and he was put on oral and injectab...

A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder in childhood with subsequent dyspepsia. The dysmorphic features did not become evident until later ...

 Background & Objective:  Low birth weight is considered as one the causes of infant mortality across the world. Accordingly, paying attention to neonatal growth leads to mortality rate decrement and consequently prevents future physical and mental disabilities in this age group.  Materials & Methods:  This historic (retrospective) cohort study was conducted on 280 one-year-old male and female...

Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...

BACKGROUND Public stigma against family members of people with mental illness is a negative attitude by the public which blame family members for the mental illness of their relatives. Family stigma can result in self social restrictions, delay in treatment seeking and poor quality of life. This study aimed at investigating the degree and correlates of family stigma. METHODS A quantitative cr...

OBJECTIVE To identify the combination of factors most protective of developmental delay at age 2 among children exposed to poor maternal mental health. DESIGN Observational cohort study. SETTING Pregnant women were recruited from primary healthcare offices, the public health laboratory service and community posters in Calgary, Alberta, Canada. PARTICIPANTS 1596 mother-child dyads who part...

background: to determine the mean and median delays in pulmonary tuberculosis (ptb) diagnosis among adults in one of the world’s highest gross domestic product per capita countries and identify patient and health system‑related reasons for these delays. methods: this is a cross‑sectional, face‑to‑face, prospective study of 100 subjects with confirmed ptb, conducted at main tuberculosis (tb) adm...