Pfeiffer syndrome with extreme proptosis, hypothyroidism and tail like appendage

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 rep...

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Bibliographic Details
Published inOman medical journal Vol. 29; no. 5; p. e080
Main Authors Bhat, Y. Ramesh, Soundaram V., Lewis, Leslie E., Girisha, K. M., Jayashree P., Balasubramanian S., Pratyusha R.
Format Journal Article
LanguageEnglish
Published Muscat, Oman Oman Medical Specialty Board 01.09.2014
OMJ
Subjects
Case Report
Pfeiffer syndrome
Neonate
Hypothyroidism
New associations
Proptosis
Tail like appendage
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Summary: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.
ISSN:1999-768X
2070-5204
DOI:10.5001/omj.2014.105