Measles
Measles is a most contagious disease in children characterized by skin rash, cough, runny nose, sore throat, red eyes caused by paramyxovirus. It is a fetal disease if not treated properly
It is a rare autosomal recessive disorder affecting the metabolism of bilirubin results in jaundice in children and infants(usually first day of life)
Bloom syndrome is a rare autosomal recessive inherited disorder cause by multiply break and rearrangements in chromosomes characterized by short stature, telangiectases
Cogan syndrome is rare autoimmune-mediated rheumatic disorder characterized by recurrent cornea inflammation, fever, weight loss and hearing loss
Holt-oram syndrome (HOS) is an autosomal inherited disorder characterized by abnormalities of the upper limbs and heart. Holt and Oram first described this condition in 1960.
Kabuki syndrome is a rare congenital condition characterized by unusual facial features, skeletal abnormalities, and intellectual impairment due to genetic abnormalities.
Jackson-Weiss syndrome is a rare genetic disorder caused by mutation in the FGFR2 gene on chromosome 10 characterized by foot abnormalities
Alagille syndrome is a rare genetic disorder caused by mutations of the JAG1 gene on Chromosome 20, characterized by multisystem disorder involving primarily the liver
Fanconi syndrome is a disease of the proximal tubular function of the kidney in which certain substances normally absorbed into the bloodstream by
A 6 year old boy is brought to the pediatrician by his mother because of a puffy face and lethargy. A few weeks before, he had an upper respiratory tract infection, probably caused by a virus .Body temperature is 36.8 degree centigrade, BP was 95/65 and heart rate was 90 bpm. Puffiness around the eyes, [...]
Adverse neonatal and pediatric effects occur with maternal alcohol consumption during pregnancy. The diagnosis of fetal alcohol syndrome (FAS) is based on findings in the following 3 areas: (1) characteristic facial anomalies, (2) growth retardation (intrauterine growth restriction and failure to have catch-up growth), and (3) CNS involvement (cognitive impairment, learning disabilities, or behavioral abnormalities). [...]
Patent ductus arteriosus (PDA) is a persistence of the fetal connection (ductus arteriosus) between the aorta and pulmonary artery after birth, resulting in a left-to-right shunt. Symptoms may include failure to thrive, poor feeding, tachycardia, and tachypnea. A continuous machine-like murmur in the upper left sternal border is common. Diagnosis is by echocardiography. Administration of [...]