McCune-Albright Syndrome (MAS) is characterized by a triad of physical signs-café-au-lait pigmented skin lesions, polystotic fibrous dysplasia (FD) & endocrine dysfunction, which particularly manifests as peripheral precocious puberty in girls.1,2 It is a rare disease with an estimated prevalence between … Continue reading →

Jeune syndrome (Asphyxiating thoracic dystrophy) is a rare autosomal recessive skeletal dysplasia characterized by small thorax, short ribs and polydactyly. International Working Group on Constitutional Diseases of Bone classified short rib and polydactyly syndrome into 6 types: type 1 (Saldino- … Continue reading →

Escobar syndrome is a rare autosomal recessive disorder which is also called “multiple pterygium syndrome.” Multiple pterygium syndrome is manifested by two types – lethal and the non-lethal type. The more severe presentation, the lethal multiple pterygium syndrome comprises intrauterine … Continue reading →

Introduction: Diastrophic is a Greek word meaning twisted or tortuous. The term was first used in 1960 for a dysplastic condition of bones.1 Skeletal dysplasias are a heterogeneous group of conditions associated with abnormalities of skeleton, including its shape, size … Continue reading →

Abstract Biliary atresia (BA) is a rare neonatal disease of unknown etiology, where obstruction of the biliary tree causes severe cholestasis, leading to biliary cirrhosis and death in the first years of life, if the condition is left untreated. It … Continue reading →

Abstract Human immune deficiency virus (HIV) infection leading to acquired immune deficiency syndrome (AIDS) has been a major cause of illness and death among children, teens and young adults worldwide. In recent years, HIV infection rates have been increasing rapidly … Continue reading →

Abstract Background : Neurometabolic disorders (NMD) in children may present at any age with a wide range of clinical manifestations. Unexplained or intractable seizure is one of the important associations. Consanguinity, regression of development and sibling death are the clues … Continue reading →

Abstract Background: Diarrhoea is a leading cause of illness & death among children in developing countries. Hypernatraemia is a serious complication in acute diarrhoea. It is usually associated with high case fatality rate. Objective: This study, was undertaken to measure … Continue reading →

Background: Portal hypertension is defined by a pathological increase in portal venous pressure. Any condition that interfere with blood flow at any level within the portal system can lead to portal hypertension. For better management, it is important to determine … Continue reading →

Background: Newborns with Hypoxic Ischemic Encephalopathy (HIE) are at risk of neuro-developmental disabilities. Early identification of their neuro-developmental impairments (NDI), immediate intervention and reassessment might be a useful method to measure and prevent major disability. This study was performed to … Continue reading →