Literature DB >> 3346884

A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.

U G Froster-Iskenius1, J R Waterson, J G Hall.   

Abstract

Two families are presented, each with two affected sibs, all four of whom seem to have a newly described and specific form of congenital contractures (arthrogryposis). The affected subjects have congenital torticollis, dysmorphic, asymmetrical, myopathic facial features, and progressive scoliosis. Two sibs had cleft palate. Malignant hyperthermia has occurred in two of the patients.

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Mesh：

Year:  1988        PMID： 3346884      PMCID： PMC1015451          DOI： 10.1136/jmg.25.2.104

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  CONGENITAL MUSCULAR TORTICOLLIS: CASE REPORTS IN SIBLINGS.

Authors:  P A BARENFELD; M S WESELEY
Journal:  Bull Hosp Joint Dis       Date:  1963-10

2.  Congenital muscular torticollis; etiology and pathology.

Authors:  R T LIDGE; R C BECHTOL; C N LAMBERT
Journal:  J Bone Joint Surg Am       Date:  1957-10       Impact factor: 5.284

3.  The coexistence of torticollis and congenital dysplasia of the hip.

Authors:  C D Hummer; G D MacEwen
Journal:  J Bone Joint Surg Am       Date:  1972-09       Impact factor: 5.284

4.  Malignant hyperpyrexia and sudden infant death.

Authors:  M A Denborough; G J Galloway; K C Hopkinson
Journal:  Lancet       Date:  1982-11-13       Impact factor: 79.321

5.  Malignant hyperthermia in Duchenne muscular dystrophy.

Authors:  A K Brownell; R T Paasuke; A Elash; S B Fowlow; C G Seagram; R J Diewold; C Friesen
Journal:  Anesthesiology       Date:  1983-02       Impact factor: 7.892

6.  Malignant hyperthermia in a child with Duchenne muscular dystrophy.

Authors:  H M Kelfer; W D Singer; R N Reynolds
Journal:  Pediatrics       Date:  1983-01       Impact factor: 7.124

7.  Torticollis in infancy and adolescence.

Authors:  A McDaniel; B E Hirsch; A D Kornblut; V M Armbrustmacher
Journal:  Ear Nose Throat J       Date:  1984-10       Impact factor: 1.697

8.  Anesthetic-induced malignant hyperpyrexia in children.

Authors:  J O King; M A Denborough
Journal:  J Pediatr       Date:  1973-07       Impact factor: 4.406

9.  Helmet treatment for plagiocephaly and congenital muscular torticollis.

Authors:  S K Clarren; D W Smith; J W Hanson
Journal:  J Pediatr       Date:  1979-01       Impact factor: 4.406

10.  Limb pterygium syndromes: a review and report of eleven patients.

Authors:  J G Hall; S D Reed; K N Rosenbaum; J Gershanik; H Chen; K M Wilson
Journal:  Am J Med Genet       Date:  1982-08
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  3 in total

1.  Congenital muscular torticollis-case report and an effective treatment plan.

Authors:  Muralee Mohan; Smitha Bhat; Rajendra Prasad; S M Sharma; Tarun Lunawat Jain
Journal:  J Maxillofac Oral Surg       Date:  2012-01-24

Review 2.  The value of the study of natural history in genetic disorders and congenital anomaly syndromes.

Authors:  J G Hall
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

3.  A new form of autosomal dominant arthrogryposis.

Authors:  M M Lai; M A Tettenborn; J G Hall; L J Smith; A C Berry
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318
  3 in total

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