chondroectodermal dysplasia (ellis-van creveld syndrome) is a rare autosomal recessive congenital abnormality. this syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. it is imperative to not overlook the cardiac complications in patients with this syndrome during den...

concurrence of interstitial nephritis and uveitis named tubulointestitioal nephritis and uveitis syndrome (tinu) are unusual and uncommon presentations of interstitial nephritis. this syndrome is considered after ruling out other differential diagnoses. a-38-year old man presented with acute renal failure and uveitis. the histologic findings of renal biopsy showed acute tubulointestitioal nephr...

Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with clinical manifestations of recurrent hypove...

The presentation and clinical diagnosis of Rett syndrome at various ages and stages are reviewed. In addition to the classical form, variability in phenotype between different atypical Rett forms is given. Obligatory, supportive, and differential diagnostic criteria are summarized. Long-term follow-up findings in ageing Rett women are addressed.

ABNORMALITIES of thoracic configuration cani alter the iniformation derived from clinical assessment of the heart. Altlhouigh these alterations may he subtle, occasionally they may be sufficiently overt to produice signs that closely mimic organic heart disease. Pecttus excavatumn' 2 is a wvellrecognized thoracic deformity in this category. On the, other hand, absence, of normal thoracic kyphos...

background: the novel influenza a (h1n1) virus was first detected in march 2009 in mexico and then disseminated to many other countries worldwide. in this study, we assessed the potential risk factors of swine flu as well as the most important clinical manifestations of this infectious disease among confirmed cases during early phase of pandemic h1n1. methods: subjects (cases and controls) were...

background: myocardial infarction is a fatal symbol of cardiovascular diseases, which usually occurs in people over 45 years. however, the incidence of factors such as obesity, high blood pressure, diabetes and metabolic syndrome has increased the risk of developing early cardiovascular diseases in the middle-aged people. this study was conducted to compare the clinical manifestation of myocard...

nevoid basal cell carcinoma syndrome (bcns) is an autosomal dominant inherited disorder. multiple organ systems may be affected in this syndrome including abnormalities of the skin, skeletal system, genitourinary system and central nevus system. in this report, we present a case of nevoid basal cell carcinoma syndrome in a 26-year-old male patient. the patient had multiple odontogenic keratocys...