Literature DB >> 3621655

Multiple pterygium syndrome: a case complicated by malignant hyperthermia.

L K Robinson, N C O'Brien, M C Puckett, M A Cox.   

Abstract

The autosomal recessive multiple pterygium syndromes are a heterogeneous group of disorders in which multiple joint contractures are associated with cutaneous webbing. Recently, we evaluated a 33 week gestation male in whom multiple pterygia were one feature of a broader pattern of malformation. Clinical management was adversely affected by malignant hyperthermia. In this report we present the clinical, radiographic and pathologic data of this patient and those of an affected stillborn female sibling. We believe that these represent the features of a newly recognized disorder.

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Year:  1987        PMID: 3621655     DOI: 10.1111/j.1399-0004.1987.tb03315.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  7 in total

1.  Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy.

Authors:  M Ohkubo; T Ino; S Shimazaki; K Yabuto; R Okada; T Sato
Journal:  Pediatr Cardiol       Date:  1996 Jan-Feb       Impact factor: 1.655

Review 2.  Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Authors:  Sheila Riazi; Natalia Kraeva; Philip M Hopkins
Journal:  Anesthesiology       Date:  2018-01       Impact factor: 7.892

3.  Anesthesic management for escobar syndrome: case report.

Authors:  Ayse Hande Arpaci; Fusun Bozkirli; Onur Konuk
Journal:  Case Rep Med       Date:  2011-03-30

4.  Anaesthetic Challenges in a Paediatric Patient with Escobar Syndrome-Difficult Airway and Postoperative Pneumothorax.

Authors:  Waleed Bin Ghaffar; Irfan Ul Haq; Arham Shahid; Samina Ismail
Journal:  Turk J Anaesthesiol Reanim       Date:  2021-12

5.  Airway management in Escobar syndrome: A formidable challenge.

Authors:  Shaji Mathew; Souvik Chaudhuri; Hd Arun Kumar; Tim Thomas Joseph
Journal:  Indian J Anaesth       Date:  2013-11

6.  Multiple pterygium syndrome: Challenge for anesthesiologist.

Authors:  P Sethi; P K Bhatia; N Gupta; K Singh
Journal:  Saudi J Anaesth       Date:  2016 Jul-Sep

7.  Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Authors:  Ariana Kariminejad; Siavash Ghaderi-Sohi; Hamid Hossein-Nejad Nedai; Vahid Varasteh; Ali-Reza Moslemi; Homa Tajsharghi
Journal:  BMC Musculoskelet Disord       Date:  2016-03-01       Impact factor: 2.362

  7 in total

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