Literature DB >> 317927

Genetic counseling of families with Marfan syndrome and other disorders showing a Marfanoid body habitus.

L A Bard.   

Abstract

Eight pedigrees of patients with Marfan syndrome are presented. In addition, four pedigrees of patients with conditions sometimes showing a marfanoid body habitus are described: Wagner-Stickler syndrome, multiple endocrine neoplasia type III, Ehlers-Danlos syndrome type VIA, and congenital contractural arachnodactyly type II. Emphasis is placed on the importance of genetic information in the differential diagnosis and management of patients and family members by the ophthalmologist.

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Year:  1979        PMID: 317927     DOI: 10.1016/s0161-6420(79)35344-1

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  4 in total

1.  Pulmonary Function in Patients With Multiple Endocrine Neoplasia 2B.

Authors:  Sarah Fuller; Jaydira Del Rivero; David Venzon; Maran Ilanchezhian; Deborah Allen; Les Folio; Alexander Ling; Brigitte Widemann; Joseph R Fontana; John Glod
Journal:  J Clin Endocrinol Metab       Date:  2020-09-01       Impact factor: 5.958

Review 2.  Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

Authors:  P J Morrison; N C Nevin
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

Review 3.  Marfan syndrome.

Authors:  Dianna M Milewicz; Alan C Braverman; Julie De Backer; Shaine A Morris; Catherine Boileau; Irene H Maumenee; Guillaume Jondeau; Arturo Evangelista; Reed E Pyeritz
Journal:  Nat Rev Dis Primers       Date:  2021-09-02       Impact factor: 65.038

4.  A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract.

Authors:  Banafshe Shahnazari; Aria Aghamaleki; Bagher Larijani; Mohammad Reza Mohajeri Tehrani; Hasan Rafati; Abdolreza Babamahmoodi
Journal:  Case Rep Med       Date:  2012-10-08
  4 in total

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