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| SPECIALIST ANSWERS
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Question |
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 DIANOSIS?
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Answer |
Rule out the following :
CARPENTER SYNDROME
ROBERTS-SC PHOCOMELIA
XXXX SYNDROME
XXXXX SYNDROME
XXXXY SYNDROME
XXY SYNDROME
DELETION 5P SYNDROME
KILLIAN/TESCHLER-NICOLA SYNDROME
MECKEL-GRUBER SYNDROME
These are the syndromes that are displayed when you use the tool of DIAGNOSTIC AID on www.pediatriconcall.com and type the following keywords: "hydrocephalus, hypertelorism, microphthalmia, retrognathia, low hair line, short neck, clinodactyly, widely placed nipple".
You can access the tool on the link given below:
http://www.pediatriconcall.com/fordoctor/pediatricanalysis/pediatricanalysis.asp
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