Literature DB >> 9950366

Sotos syndrome and cutis laxa.

S P Robertson1, A Bankier.   

Abstract

Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of Sotos syndrome. We report three patients with the anthropometric and dysmorphological appearance of classical Sotos syndrome in association with redundant skin folds, joint hypermobility, and, in two of the three, vesicoureteric reflux suggestive of a coexisting connective tissue disorder. All of the patients had a normal bone age suggesting that Sotos syndrome in its classically described form was not present and that this entity possibly reflects a related, perhaps allelic, condition.

Entities:  

Mesh:

Year:  1999        PMID: 9950366      PMCID: PMC1762952     

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


  14 in total

1.  Sotos syndrome.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Cutis laxa. Ultrastructural and biochemical studies.

Authors:  K Hashimoto; T Kanzaki
Journal:  Arch Dermatol       Date:  1975-07

3.  Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.

Authors:  J Allanson; W Austin; F Hecht
Journal:  Clin Genet       Date:  1986-02       Impact factor: 4.438

4.  The dominant and recessive forms of cutis laxa.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

5.  Cutis laxa.

Authors:  F R Brown; K A Holbrook; P H Byers; D Stewart; J Dean; R E Pyeritz
Journal:  Johns Hopkins Med J       Date:  1982-04

6.  De Barsy syndrome--an autosomal recessive, progeroid syndrome.

Authors:  J Kunze; F Majewski; P Montgomery; A Hockey; I Karkut; T Riebel
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

7.  Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin.

Authors:  J M Wit; F A Beemer; P G Barth; J W Oorthuys; P F Dijkstra; J L Van den Brande; N J Leschot
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

8.  Congenital cutis laxa with retardation of growth and development.

Authors:  M A Patton; J Tolmie; P Ruthnum; S Bamforth; M Baraitser; M Pembrey
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

9.  Cutis laxa with delayed development.

Authors:  J G Rogers; D M Danks
Journal:  Aust Paediatr J       Date:  1985-11

Review 10.  Craniofacial manifestations of Ehlers-Danlos syndromes, cutis laxa syndromes, and cutis laxa-like syndromes.

Authors:  R J Gorlin; M M Cohen
Journal:  Birth Defects Orig Artic Ser       Date:  1989
View more
  4 in total

1.  Soto's syndrome with bilateral hydronephrosis and hydroureters.

Authors:  Utpal S Bhalala; Pankaj R Parekh; Milind S Tullu
Journal:  Indian J Pediatr       Date:  2002-10       Impact factor: 1.967

Review 2.  Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Authors:  Aude Beyens; Lore Pottie; Patrick Sips; Bert Callewaert
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 3.  Vesicoureteral reflux and the extracellular matrix connection.

Authors:  Fatima Tokhmafshan; Patrick D Brophy; Rasheed A Gbadegesin; Indra R Gupta
Journal:  Pediatr Nephrol       Date:  2016-05-02       Impact factor: 3.714

Review 4.  Lower urinary tract development and disease.

Authors:  Hila Milo Rasouly; Weining Lu
Journal:  Wiley Interdiscip Rev Syst Biol Med       Date:  2013-02-13
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.