Pfeiffer syndrome with extreme proptosis, hypothyroidism and tail like appendage

Abstract EN

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.