Literature DB >> 3605210

Proteus syndrome: an expanded phenotype.

R D Clark, D Donnai, J Rogers, J Cooper, M Baraitser.   

Abstract

We report on 11 new cases of Proteus syndrome to illustrate the broad range of the phenotype in this hamartomatous dysplasia. The cardinal manifestations of this sporadic disorder are hemihypertrophy, macrodactyly, exostoses, scoliosis, cavernous hemangiomas, lipomas, linear sebaceous nevi, and deeply rugated soles of the feet. Intelligence is usually normal. The differential diagnosis includes Klippel-Trenaunay-Weber and partial lipodystrophy syndromes.

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Year:  1987        PMID： 3605210     DOI： 10.1002/ajmg.1320270111

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


  16 in total

1.  Sotos syndrome: a study of the diagnostic criteria and natural history.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

2.  Proteus syndrome: report of a case with severe brain impairment and fatal course.

Authors:  R Rizzo; L Pavone; G Sorge; E Parano; M Baraitser
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

Review 3.  Vascular anomalies: what a radiologist needs to know.

Authors:  Josée Dubois; Marianne Alison
Journal:  Pediatr Radiol       Date:  2010-04-30

4.  A review of vascular anomalies: genetics and common syndromes.

Authors:  Elizabeth Killion; Kriti Mohan; Edward I Lee
Journal:  Semin Plast Surg       Date:  2014-05       Impact factor: 2.314

5.  Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.

Authors:  Kiyomi Yamazaki; Charis Eng; Sergei A Kuznetsov; John Reinisch; Dennis-Duke Yamashita; John Walker; Craig Cheung; Pamela G Robey; Stephen L-K Yen
Journal:  Bonekey Rep       Date:  2015-07-29

6.  Proteus syndrome versus Bannayan-Zonana syndrome: a problem in differential diagnosis.

Authors:  M G Bialer; M J Riedy; W G Wilson
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

7.  Transmission of Proteus syndrome from father to son?

Authors:  J Goodship; A Redfearn; D Milligan; D Gardner-Medwin; J Burn
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

8.  Proteus syndrome: emphasis on the pulmonary manifestations.

Authors:  B Newman; A H Urbach; D Orenstein; P S Dickman
Journal:  Pediatr Radiol       Date:  1994

9.  Cranial hemihypertrophy and neurodevelopmental prognosis.

Authors:  J C Dean; G F Cole; R E Appleton; J Burn; S A Roberts; D Donnai
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

10.  Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome.

Authors:  J M Whitley; A M Flannery
Journal:  Childs Nerv Syst       Date:  1996-04       Impact factor: 1.475
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