Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by widespread areas of abnormal bone formation in muscles, ligaments, tendons and joint capsules. Typically, the symptoms begin in the first decade of life with episodes of painful inflammatory soft tissue swellings. Gradually, there occurs restriction of motion at various joints, severely limiting the activities of daily living and the quality of life of such patients by the third decade of life. There is no definite cure available for the disease and the current treatment options target symptomatic and palliative management. We describe the case of a 10-year-old child who presented to our institute with a severe disability of upper limbs due to joint contractures along with several bony masses at various locations of the body but without having any prior complaints of painful soft tissue lesions or the characteristic flare-ups of the disease ever. Identification of typical soft tissue ossified masses in the specific anatomic pattern, along with the presence of short and malformed great toes helped us in reaching the diagnosis. Surgical procedures including biopsies should be strictly avoided in such patients to prevent triggering the development of more lesions, which occurred in our patient after inadvertent removal of the first swelling by an orthopaedic specialist.
Background: Congenital heart diseases (CHD) is the second leading cause of death in infancy and childhood. So the purpose of this study to know socio-demographic profile and the maternal risk factors affecting CHD, and the role of RBSK in screening with respect to CHD.Methods: A cross-sectional study was conducted during June to October 2016 in Ahmedabad city. Parents of 169 children with CHD who were beneficiaries of RBSK during the previous 3 months were interviewed.Results: The majority of children were in the age group of 0-3 years 49.7% (mean±SD= 4.26±4). Majority of families belonged to the lower middle class IV (41.4%). 44% of mothers had primary education. Mothers with age >30 yrs were 55.6%. Only 30.9% of mothers had taken folic acid during the periconceptional period. Mothers with previous adverse pregnancy outcome were 40.2%. Maternal stress and high blood pressure were present in 33.7% and 24.8% of the mothers respectively. 48% of children were diagnosed through Rashtriya Bal Swasthya Karyakram (RBSK).Conclusions: Lower middle class, lower maternal education, advanced maternal age, low folic acid intake, previous adverse pregnancy outcome, maternal stress and high blood pressure were the leading risk factors for CHD. RBSK is playing important role in screening and diagnosing of patients.
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