Literature DB >> 880775

Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli.

R K Beals.   

Abstract

Hereditary Arthro-ophthalmopathy (The Stickler Syndrome) is a relatively common dominantly inherited disorder of connective tissue. A wide range of musculoskeletal involvement occurs including marfanoid habitus, kyphosis, scoliosis, slipped epiphyses, joint laxity and degenerative arthritis. Congenital myopia and micrognathia are the most characteristic non-skeletal features. An affected family is reported who also exhibit protrusio acetabuli. It is important to recognize this syndrome for both diagnostic and therapeutic purposes.

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Year:  1977        PMID: 880775

Source DB:  PubMed          Journal:  Clin Orthop Relat Res        ISSN: 0009-921X            Impact factor:   4.176


  2 in total

Review 1.  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

2.  Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.

Authors:  Manisha Goyal; Seema Kapoor; Shiro Ikegawa; Gen Nishimura
Journal:  Case Rep Pediatr       Date:  2016-11-28
  2 in total

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