TY - JOUR
T1 - Pfeiffer syndrome with extreme proptosis, hypothyroidism and tail like appendage
AU - Soundaram, V.
AU - Ramesh Bhat, Y.
AU - Lewis, Leslie E.
AU - Girisha, K. M.
AU - Jayashree, P.
AU - Balasubramanian, S.
AU - Pratyusha, R.
PY - 2014
Y1 - 2014
N2 - Pfeiffer syndrome is a rare genetic disorder with combination of bicoronal craniosynostosis, broad thumbs, broad great toes, ankylosis of elbow and partial variable syndactyly of the hands and feet. Since the disorder was reported by Pfeiffer in 1964, new associations have been added on. Authors report a newborn with features of Pfeiffer syndrome type 3 with hypothyroidism, tail like appendage and extremely anteriorly placed anus as new associations.
AB - Pfeiffer syndrome is a rare genetic disorder with combination of bicoronal craniosynostosis, broad thumbs, broad great toes, ankylosis of elbow and partial variable syndactyly of the hands and feet. Since the disorder was reported by Pfeiffer in 1964, new associations have been added on. Authors report a newborn with features of Pfeiffer syndrome type 3 with hypothyroidism, tail like appendage and extremely anteriorly placed anus as new associations.
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U2 - 10.5001/omj.2014.105
DO - 10.5001/omj.2014.105
M3 - Article
C2 - 24873128
AN - SCOPUS:84911411583
SN - 1999-768X
VL - 29
JO - Oman Medical Journal
JF - Oman Medical Journal
IS - 5
ER -