Literature DB >> 9129742

The Marshall syndrome: report of a new family and review of the literature.

A L Shanske1, A Bogdanow, R J Shprintzen, R W Marion.   

Abstract

The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. To our knowledge, only seven additional multigenerational families have been reported since the initial description of the disorder by Marshall in 1958. We present a family in which six members in four generations are affected with apparent Marshall syndrome. We also review and compare similar disorders, such as Stickler, Weissenbacher-Zweimüller, and Wagner syndromes, and conclude that Marshall syndrome is a distinct entity.

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Year:  1997        PMID: 9129742     DOI: 10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors:  S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

Review 2.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

3.  Marshall syndrome associated with a splicing defect at the COL11A1 locus.

Authors:  A J Griffith; L K Sprunger; D A Sirko-Osadsa; G E Tiller; M H Meisler; M L Warman
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

4.  [Anhidrotic ectodermal dysplasia: report of one case at Mother and Child Center of Chantal Biya Foundation, Yaounde, Cameroon].

Authors:  David Chelo; Mina Njiki Kinkela; Francisca Monebenimp; Séraphin Nguefack; Augustin Ngaha; Félix Tietche
Journal:  Pan Afr Med J       Date:  2010-03-11

5.  Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.

Authors:  Meiping Chen; Hui Miao; Hanting Liang; Xiaoan Ke; Hongbo Yang; Fengying Gong; Linjie Wang; Lian Duan; Shi Chen; Hui Pan; Huijuan Zhu
Journal:  Front Endocrinol (Lausanne)       Date:  2022-02-16       Impact factor: 6.055

  5 in total

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