Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Feb 28, 2013.
What is your medical diagnosis ?
I guess this is either still born or died after birth; but definitely looks post portem.
facial features of Patau
Microcephaly ( evidenced by recessed frontal bones thus giving the impression that the eyeballs are protruding ) + cutis aplasia (frontal balding in this case) + absent eyebrows (very typical ) + Close-set eyes + depressed nasal bridge + low set malformed ears + cleft palate ....various combinations of these can be found in many syndromes involving the first 2 branchial arches
the constellation of absent eyebrows, cutis aplasia and close set eyes ( in severe cases u will hav cyclops ) go in favor of trisomy 13 / patau syndrome
it's hard to discern any of this in this image, but Sampath cud b right.
Patau syndrome - trisomy 13.
Answer : Patau Syndrome
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