Sharad Bansal
Department of Pediatrics, Mahatama Gandhi Institute of Medical and Sciences, Jaipur, Rajasthan, India
[ 1 ] - A newborn presenting with epidermolysis bullosa with duodenal atresia: A very rare case report and review of the literature
Background: Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, which are characterized by blistering of the skin and mucosa, in response to little or no apparent trauma. These disorders represent heterogeneous phenotypes and are associated with various complications ranging from localized skin fragility to neonatal death. Nevertheless, the term "Epi...
[ 2 ] - A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
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