congenital cutis laxa is an exceptional condition. no large scale pedigree has been reported from iran. we report a family with 106 members with two members affected with cutis laxa. our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. their famil...

conclusion the involved liver with hht typically shows vascular shunting and biliary diseases. also, arteriovenous shunts may be vulnerable to biliary diseases. results (i) three types of shunting were found in the livers, including arteriovenous (hepatic artery to hepatic vein) in 6 cases, arterioportal (hepatic artery to portal vein) in 2 cases, and portal venous (portal vein to hepatic vein)...

INTRODUCTION The spectrum of hereditary retinal disease in the dog is well defi ned and closely related to the intensive breeding patterns which are used in some breeds. Many retinopathies are often detected as the result of routine screening in the absence of dramatic clinical features or noticeable disturbance of sight for, while our clients may notice the painful or discoloured eye, few reco...

background: delayed or missed diagnosis of critical and cyanotic congenital heart disease (chd) in asymptomatic newborns may result in significant morbidity and mortality. the aim of this study was to determine the accuracy of pulse oximetry screening  performed on the first day of life for the early detection of critical and cyanotic chd in apparently normal newborns. methods: this cross-secti...

Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated. There are disease-causing mutations in gene...

Hereditary endocrine diseases are an important group of diseases with great heterogeneity. The current classification for hereditary endocrine disease is mostly based upon anatomy, which is helpful for pathophysiological interpretation, but does not address the pathogenic variability associated with different underlying genetic causes. Identification of an endocrinopathy-associated genetic alte...

coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. a 27-year-old man with hereditary multiple exostoses is presented as a fourth report. at the age of 15 years, the patient had multiple exostoses around the knee, ankle and shoulder joints. he was diagnosed with ankylosing spondylitis 3 years ago. the patient’s sister and hi...