Literature DB >> 30992743

Pfeiffer Syndrome with Extreme Proptosis, Hypothyroidism and Tail like Appendage.

V Soundaram1, Leslie E Lewis2, K M Girisha3, P Jayashree1, S Balasubramanian1, R Pratyusha1.   

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.

Entities:  

Keywords:  Hypothyroidism; Neonate; New associations; Pfeiffer syndrome; Proptosis; Tail like appendage

Year:  2014        PMID: 30992743      PMCID: PMC6451752          DOI: 10.5001/omj.2014.105

Source DB:  PubMed          Journal:  Oman Med J        ISSN: 1999-768X


  7 in total

1.  Thanatophoric dysplasia: a rare entity.

Authors:  N S Naveen; B V Murlimanju; Vishal Kumar; Thejodhar Pulakunta
Journal:  Oman Med J       Date:  2011-05

2.  Congenital anomalies in infant with congenital hypothyroidism.

Authors:  Zahra Razavi; Alireza Yavarikia; Saadat Torabian
Journal:  Oman Med J       Date:  2012-09

3.  Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

Authors:  Hiroshi Koga; Naohiro Suga; Takato Nakamoto; Koichi Tanaka; Noboru Takahashi
Journal:  Am J Med Genet A       Date:  2012-09-10       Impact factor: 2.802

4.  Pfeiffer syndrome: analysis of a clinical series and development of a classification system.

Authors:  Aina V H Greig; Janelle Wagner; Stephen M Warren; Barry Grayson; Joseph G McCarthy
Journal:  J Craniofac Surg       Date:  2013-01       Impact factor: 1.046

5.  Pfeiffer syndrome: a treatment evaluation.

Authors:  Jeffrey A Fearon; Jennifer Rhodes
Journal:  Plast Reconstr Surg       Date:  2009-05       Impact factor: 4.730

6.  Spectrum of human tails: A report of six cases.

Authors:  Biswanath Mukhopadhyay; Ram M Shukla; Madhumita Mukhopadhyay; Kartik C Mandal; Pankaj Haldar; Abhijit Benare
Journal:  J Indian Assoc Pediatr Surg       Date:  2012-01

Review 7.  Pfeiffer syndrome.

Authors:  Annick Vogels; Jean-Pierre Fryns
Journal:  Orphanet J Rare Dis       Date:  2006-06-01       Impact factor: 4.123

  7 in total

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