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Question

A newborn with severe hypotonia and abnormal facies which included high forehead, supraorbital ridge not prominent, retrognathia, high arched palate. she had lax skin in the neck, mild euinovarus defect. Incidental USG brain findings was colpocephaly which was confirmed by CT scan head which showed communicating hydrocephalus. As the child is not able to maintain its oxygen saturatuin beyond 88% without oxygen a possibility of cyanotic CHD was kept but @d echo revealed acynotic CHD with ASD & PDA with LVEF = 72%. what syndrome the child fits into? DTRs are absnt but there are no tongue fasciculations.Child is on gavage feeds as is not able to swallow bcoz of retrognathia, dullness & severe hypotonia.

Answer

Rule out Ehlers Danlos Syndrome, Interstitial deletions in the terminal region of chromosome 6
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