Discussions By Condition: I cannot get a diagnosis.

Syndromic baby

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: Anonymous
  • March 5, 2009
  • 04:28 AM

THIS baby with a very low birthweight of 1.1 kg length of 40 cm head circumference of 28cm was born to non consanguinous parents at 1st month of pregnancy but no other antenatal illnesses.baby was kept in nicu and treated with iv fluids phototherapy & iv antibiotics for 5 days with presumed septiceamia.she was later followed up and several inv carried out to identify the cause and evaluate for failure to thrive.her thyriod function tests are Normal ,Xray chest was normal ,echocardiography showed SMALL OSTEUM SECONDUM ASD .her se.calcium and blood glucose levels were normal.her karyotyping nd high resolution banding chromosome analysis showed 46 XX with no structural &functional chr abnormality she is now1 1/2 years old she can stand with support crawls all over & can say monosyllables. her head cir is69 cm weight is4.9 kg length is 69 cm .she has triangular facies with high forehead widely placed eyes full cheeks thick lips small chin and low set ears she has clinodatyly of both little fingers her genitalia are apparently normal. her phenotypic features are suggestive of williams syndrome

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