Bhat, Ramesh Y and Sen, Supratem (2008) A Neonate With Extended Spectrum and Thrombocytopenia. Townes-Brocks Syndrome, 29 (9). pp. 1337-1339.

PDF TBS_SaMJ_08.pdf - Published Version Restricted to Registered users only Download (189kB) | Request a copy

Abstract

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.

Item Type:	Article
Subjects:	Medicine > KMC Manipal > Paediatrics
Depositing User:	KMC Manipal
Date Deposited:	23 Jan 2012 06:28
Last Modified:	21 Sep 2012 10:50
URI:	http://eprints.manipal.edu/id/eprint/2667

Actions (login required)

View Item