Literature DB >> 22691592

Campomelic dysplasia and malignant hyperthermia.

Andreia Barros1, Filomena Teixeira, Maria Carmo Camacho, Cristina Alves.   

Abstract

Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia.

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Year:  2011        PMID: 22691592      PMCID: PMC3116224          DOI: 10.1136/bcr.04.2011.4112

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  10 in total

1.  The phenotype of survivors of campomelic dysplasia.

Authors:  S Mansour; A C Offiah; S McDowall; P Sim; J Tolmie; C Hall
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

Review 2.  Campomelic dysplasia: case report and review.

Authors:  M Gimovsky; E Rosa; T Tolbert; G Guzman; M Nazir; K Koscica
Journal:  J Perinatol       Date:  2008-01       Impact factor: 2.521

3.  Campomelic dysplasia: a rare cause of congenital spinal deformity.

Authors:  Nader S Dahdaleh; Gregory W Albert; David M Hasan
Journal:  J Clin Neurosci       Date:  2010-03-02       Impact factor: 1.961

4.  Nosology and classification of genetic skeletal disorders: 2006 revision.

Authors:  Andrea Superti-Furga; Sheila Unger
Journal:  Am J Med Genet A       Date:  2007-01-01       Impact factor: 2.802

5.  Hyperthermia in the pediatric intensive care unit--is it malignant hyperthermia?

Authors:  Laura E Schleelein; Ronald S Litman
Journal:  Paediatr Anaesth       Date:  2009-08-20       Impact factor: 2.556

6.  Prenatal sonographic diagnosis of skeletal dysplasias.

Authors:  T Schramm; K P Gloning; S Minderer; C Daumer-Haas; K Hörtnagel; A Nerlich; B Tutschek
Journal:  Ultrasound Obstet Gynecol       Date:  2009-08       Impact factor: 7.299

7.  Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

Authors:  A Superti-Furga; R Tenconi; M Clementi; G Eich; B Steinmann; E Boltshauser; A Giedion
Journal:  Am J Med Genet       Date:  1998-06-30

Review 8.  Orthopaedic manifestations of campomelic dysplasia.

Authors:  Khalid Khoshhal; R Mervyn Letts
Journal:  Clin Orthop Relat Res       Date:  2002-08       Impact factor: 4.176

9.  De novo pericentric inversion of chromosome 9 in congenital anomaly.

Authors:  Seon-Yong Jeong; Bo-Young Kim; Jae Eun Yu
Journal:  Yonsei Med J       Date:  2010-09       Impact factor: 2.759

10.  A case of campomelic dysplasia without sex reversal.

Authors:  Hyoung-Young Kim; Chong Hyun Yoon; Gu-Hwan Kim; Han-Wook Yoo; Byong Sop Lee; Ki Soo Kim; Ellen Ai-Rhan Kim
Journal:  J Korean Med Sci       Date:  2010-12-22       Impact factor: 2.153

  10 in total

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