RT Journal Article
SR Electronic
T1 Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia.
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1337
OP 1339
VO 29
IS 9
A1 Bhat, Ramesh Y.
A1 Sen, Supratem
YR 2008
UL http://smj.org.sa/content/29/9/1337.abstract
AB Townes-Brocks syndrome is a rare malformation syndrome characterized by thumb, auricular, renal, and anal anomalies. Both familial and isolated cases with clinical heterogeneity were reported in the medical literature. We present a sporadic case with typical clinical features and extended spectrum, that has previously not been described. Left sided facial palsy, external auditory canal atresia, club hand with radius aplasia, bilateral clubfoot, and sacral skin tag were the additional findings. Isolated patent ductus arteriosus was the associated congenital heart defect. Thrombocytopenia was another documented hematological abnormality.