Category: Pediatrics

Chickenpox

Chickenpox

Chickenpox is a highly contagious viral disease characterized by itch rash, fever, headache and weakness caused by varicella zoster virus. Chickenpox is most common in children who

Measles

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

Crigler-Najjar syndrome

Crigler-Najjar syndrome

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

Bloom Syndrome

Bloom syndrome is a rare autosomal recessive inherited disorder cause by multiply break and rearrangements in chromosomes characterized by short stature, telangiectases

Cogan syndrome

Cogan syndrome

Cogan syndrome is rare autoimmune-mediated rheumatic disorder characterized by recurrent cornea inflammation, fever, weight loss and hearing loss

Holt-Oram Syndrome

Holt-Oram Syndrome

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

Kabuki syndrome

Kabuki syndrome is a rare congenital condition characterized by unusual facial features, skeletal abnormalities, and intellectual impairment due to genetic abnormalities.

Jackson-Weiss syndrome

Jackson-Weiss syndrome

Jackson-Weiss syndrome is a rare genetic disorder caused by mutation in the FGFR2 gene on chromosome 10 characterized by foot abnormalities

Alagille syndrome

Alagille syndrome

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

Fanconi syndrome

Fanconi syndrome is a disease of the proximal tubular function of the kidney in which certain substances normally absorbed into the bloodstream by

Fetal Alcohol Syndrome

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). [...]

case to be daignosed

A 1 month old male child presented with the history of abdominal distension associated with vomiting and recurrent chest infection and  passing  clay colored stool several episode per day since 15 days of life.On lab examination total bilirubin was 9.4gm/dl, direct bilirubin 3.2gm/dl and other liver function test revealed normal range.  On view of biliary atresia USG was done [...]

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