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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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Question Category : Genetic Disorders
A 7 years male child presented with short stature,height is 89cms,proporsionate,delayed mile stone,difficulty in climbing the stairs.there is no mental retardation,joint laxity was present,kyphosis,delayed bone age,gross hepatomegaly, on usg fatty changes,kidney normal,LFT,KFT,electrolyte normal.CT BRAIN shows basal ganglia calcification.genitalia normal,flat feet present,had one episode of epistaxis.fundus normal.CPK 30mg%. WHAT COULD BE THE POSSIBLE DIAGNOSIS? Check Out the Answer
Question Category : Genetic Disorders
One term newborn admitted with hydrocephalus (diagnosed on antenatal usg)with dysmorphic facies ,hypertelorism,microophalmia,fundus showed pale disc,retrognathia,no cleft lip,palate,low hair line,short neck,clinodactyly,genitalia normal,flat chest with widely placed nipple,no organomegaly.x-ray spine showed clefting of vertebra.torch titer normal.no chd .WHAT WILL BE POSSIBLE DIAGNOSIS? Check Out the Answer
Question Category : Genetic Disorders
I have a 5 month old baby who has low trunk / neck tone and a protruding tongue and a flatten nasal bridge. We were concerned about Downs. We have had a chromosome analysis done and it was normal female. What could be possible causes of the protruding tongue, and the low trunk tone? Cerebral palsy? Should we have a more in-depth chromosome study done? Does the protruding tongue go away as the baby gets older? Thank you. Check Out the Answer
Question Category : Genetic Disorders
A newborn was brought to us with autosomal recessive polycystic kidney disease,hepatic cysts and mega cysterna magna.What are the possible differential diagnosis? Check Out the Answer
Question Category : Genetic Disorders
How to distinguish HUS from sepsis with MODS if blood c/s is negative? Any management modality for mitochondrial disorders? Check Out the Answer
Question Category : Genetic Disorders
Dear Sir, Karyotyping report of my daughter is - BANDING TECHNIQUE-GTG BAND LEVEL -550,no of metaphase -10,KARYOTYPING abnormality, IMPRESSION-CHROSOMAL ABNORMALITY 21 TRISOMY. I want to does this karotyping report suggest that we should go for our i.e. parents KARYOTYPING or we should plan for next baby and go for amniocentesis & second stage USG and triple test of FOETUS to rule out genetic abnormality. Check Out the Answer
Question Category : Genetic Disorders
Thank you for the response. Baby about whom I had asked turned out to be FATTY ACID OXIDATION DISORDER. Now the kid is maintaining sugar level. Any new suggestion? drakjaleel coimbatore T.Nadu. Check Out the Answer

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