Pfeiffer syndrome with extreme proptosis, hypothyroidism and tail like appendage

V. Soundaram, Y. Ramesh Bhat, Leslie E. Lewis, K. M. Girisha, P. Jayashree, S. Balasubramanian, R. Pratyusha

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
JournalOman Medical Journal
Volume29
Issue number5
DOIs
Publication statusPublished - 2014

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Acrocephalosyndactylia
Exophthalmos
Hypothyroidism
Hallux
Syndactyly
Ankylosis
Craniosynostoses
Inborn Genetic Diseases
Thumb
Anal Canal
Elbow
Foot
Hand

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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Pfeiffer syndrome with extreme proptosis, hypothyroidism and tail like appendage. / Soundaram, V.; Ramesh Bhat, Y.; Lewis, Leslie E.; Girisha, K. M.; Jayashree, P.; Balasubramanian, S.; Pratyusha, R.

In: Oman Medical Journal, Vol. 29, No. 5, 2014.

Research output: Contribution to journalArticle

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AU - Soundaram, V.

AU - Ramesh Bhat, Y.

AU - Lewis, Leslie E.

AU - Girisha, K. M.

AU - Jayashree, P.

AU - Balasubramanian, S.

AU - Pratyusha, R.

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