Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Feb 10, 2013.
what is your medical diagnosis ?
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 but this constellation of findings esp. the absent eyebrows, cutis aplasia and close set eyes ( in severe cases u will hav cyclops ) go in favor of trisomy 13 / patau syndrome
Answer : Patau Syndrome
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