A Newborn With Severe Hypotonia - Genetic Disorders FAQs

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

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

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Question
A newborn with severe hypotonia and abnormal faces 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 2d echo revealed acyanotic CHD with ASD & PDA with LVEF = 72%. What syndrome the child fits into? DTRs are absent, but there are no tongue fasciculations. Child is on gavage feeds as is not able to swallow bcoz of retrognathia, dullness & severe hypotonia.
Answer
ACROCALLOSAL SYNDROME ATHYROTIC HYPOTHYROIDISM SEQUENCE (PATENT DUCTUS ARTERIOSUS) CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME DELETION 4P SYNDROME DELETION 4Q SYNDROME DELETION 9P SYNDROME DELETION 11Q SYNDROME DELETION 18Q SYNDROME DOWN SYNDROME (ENDOCARDIAL CUSHION DEFECT) KABUKI SYNDROME MILLER-DIEKER SYNDROME MULIBREY NANISM SYNDROME (PERICARDIUM) NOONAN SYNDROME SHORT RIB-POLYDACTYLY SYNDROME, TYPE I (SALDINO-NOONAN TYPE) SHPRINTZEN SYNDROME (CONOTRUNCAL DEFECTS) TRISOMY 13 SYNDROME WILLIAMS SYNDROME BLEPHAROPHIMOSIS SYNDROME COFFIN-SIRIS SYNDROME COHEN SYNDROME DELETION 3P SYNDROME DELETION 5P SYNDROME DELETION 18P SYNDROME FG SYNDROME KILLIAN/TESCHLER-NICOLA SYNDROME LANGER-GIEDION SYNDROME MARDEN-WALKER SYNDROME OPITZ SYNDROME SIMPSON-GOLABI-BEHMEL SYNDROME SMITH-LEMLI-OPITZ SYNDROME SOTOS SYNDROME THANATOPHORIC DYSPLASIA XXXXY SYNDROME ZELLWEGER SYNDROME. Back to All Questions

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Should teicoplannin, colistin be used in case of neonatal sepsis where culture does not reveal any organism_?

No, it should be used only after drug sensitivity report

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