Noonan syndrome is a genetic multisystem disorder characterised by facial dysmorphism, learning difficulties, developmental delay, short stature, cardiac defects, bleeding manifestations and lymphatic malformation affecting 1 in 1000-2500 children. This is a case report of a twenty six month old boy diagnosed to have Noonan syndrome with sporadic inheritance secondary to advanced paternal age. Multidisciplinary approach is the key to success in managing these children, who are diagnosed at an early age. KEYWORDS: Genetic, dysmorphism, de novo mutagenesis, multidisciplinary approach.
CASE REPORT:A twenty six month old male child born of a non-consanguineous marriage was brought to the paediatric outpatient clinic by his parents with the complaints of delayed development of speech. General examination of the child revealed that he was short statured [
This report presents the case history of a six year old child who was portrayed as having recurrent haemetemesis since two years by her mother. A detailed evaluation showed that the patient's history was inconsistent with the clinical findings and investigations, leading to a diagnosis of Factitious Disorder by Proxy (FDbp). The report highlights the rationale for under-diagnosis of FDbp in India and challenges the conventional approach (Parentectomy) for treating FDbp.
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