Literature DB >> 2359106

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

R Rizzo1, L Pavone, G Sorge, E Parano, M Baraitser.   

Abstract

A patient with Proteus syndrome is reported. He had hemihypertrophy, bilateral hypertrophy of the third fingers, skin anomalies, and varicosities, as well as mental retardation, seizures resistant to anticonvulsant treatment, and a very severe course with death at the age of 2 years.

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Year:  1990        PMID： 2359106      PMCID： PMC1017142          DOI： 10.1136/jmg.27.6.399

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


  9 in total

1.  A newly recognized hamartomatous syndrome.

Authors:  M M Cohen; P W Hayden
Journal:  Birth Defects Orig Artic Ser       Date:  1979

2.  Proteus syndrome: an expanded phenotype.

Authors:  R D Clark; D Donnai; J Rogers; J Cooper; M Baraitser
Journal:  Am J Med Genet       Date:  1987-05

3.  Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.

Authors:  D L Viljoen; M M Nelson; G de Jong; P Beighton
Journal:  Am J Med Genet       Date:  1987-05

4.  Cutaneous manifestation of lethal genes.

Authors:  R Happle
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

5.  Further and new details on the Proteus syndrome.

Authors:  G R Burgio; H R Wiedemann
Journal:  Eur J Pediatr       Date:  1984-11       Impact factor: 3.183

6.  Proteus syndrome: report of two cases with pelvic lipomatosis.

Authors:  T Costa; N Fitch; E M Azouz
Journal:  Pediatrics       Date:  1985-12       Impact factor: 7.124

7.  Severe proteus syndrome in an 18-month-old boy.

Authors:  A Malamitsi-Puchner; S Kitsiou; C S Bartsocas
Journal:  Am J Med Genet       Date:  1987-05

8.  The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.

Authors:  H R Wiedemann; G R Burgio; P Aldenhoff; J Kunze; H J Kaufmann; E Schirg
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183

9.  Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings.

Authors:  E Mayatepek; T W Kurczynski; E S Ruppert; J R Hennessy; R A Brinker; B N French
Journal:  Am J Med Genet       Date:  1989-03
  9 in total
  3 in total

1.  Hemimegalencephaly, hemihypertrophy and vascular lesions.

Authors:  A Cristaldi; F Vigevano; G Antoniazzi; M di Capua; A Andreuzzi; G Morselli; F Iorio; G Fariello; G Trasimeni; G F Gualdi
Journal:  Eur J Pediatr       Date:  1995-02       Impact factor: 3.183

2.  Proteus syndrome: report of a case with developmental glaucoma.

Authors:  Zuleyha Sik Sarman; Nursen Yuksel; Hakan Sarman; Dilek Bayramgurler
Journal:  Korean J Ophthalmol       Date:  2014-05-19

3.  Radiographic findings of Proteus Syndrome.

Authors:  Nishant Mukesh Gandhi; Eric A Davalos; Rajeev K Varma
Journal:  Radiol Case Rep       Date:  2015-12-07
  3 in total

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