Literature DB >> 3294017

The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature.

C Rudin1, L Thommen, C Fliegel, B Steinmann, U Bühler.   

Abstract

A boy with the pseudo-hydrocephalic progeroid syndrome (McKusic 26409) is presented and compared to five previously reported children. The boy presented with major skeletal abnormalities, which receded during the first few months of life. Special investigations like studies on collagen, electron microscopy, and growth studies of fibroblasts did not contribute to our knowledge of the pathogenesis of this rare disease.

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Year:  1988        PMID: 3294017     DOI: 10.1007/bf00496430

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  9 in total

1.  [Not Available].

Authors:  H R WIEDEMANN
Journal:  Z Kinderheilkd       Date:  1948

Review 2.  The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature.

Authors:  F L DeBusk
Journal:  J Pediatr       Date:  1972-04       Impact factor: 4.406

3.  [Some progeroid cases and their diagnostic classification].

Authors:  H R Wiedemann
Journal:  Z Kinderheilkd       Date:  1969

4.  An unidentified neonatal progeroid syndrome: follow-up report.

Authors:  H R Wiedemann
Journal:  Eur J Pediatr       Date:  1979-01-18       Impact factor: 3.183

5.  The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case.

Authors:  J J Martin; C M Ceuterick; J G Leroy; E A Devos; J G Roelens
Journal:  Neuropediatrics       Date:  1984-02       Impact factor: 1.947

6.  A new neonatal progeroid syndrome.

Authors:  F Snigula; T Rautenstrauch
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

7.  Progeria: a cell culture study and clinical report of familial incidence.

Authors:  T Rautenstrauch; F Snigula
Journal:  Eur J Pediatr       Date:  1977-01-26       Impact factor: 3.183

8.  The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents.

Authors:  E A Devos; J G Leroy; J P Frijns; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

9.  Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.

Authors:  B Steinmann; A Nicholls; F M Pope
Journal:  J Biol Chem       Date:  1986-07-05       Impact factor: 5.157

  9 in total
  7 in total

1.  Radiographic findings in Wiedemann-Rautenstrauch syndrome.

Authors:  M G Obregon; G L Bergami; A Giannotti; M C Digilio; Q Virgili; A M Guadagni; E Pompei; B Dallapiccola
Journal:  Pediatr Radiol       Date:  1992

2.  A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.

Authors:  M B Delatycki; M A Cleary; A Bankier; P N McDougall; J S Ahluwalia; C W Chow; C M Cooke-Yarborough
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Wiedemann-Rautenstrauch syndrome prenatal diagnosis.

Authors:  C H Becerra; G A Contreras-García; L A Perez Vera; L A Díaz-Martínez; M A Beltran Avendaño; H A Salazar Martínez
Journal:  J Perinatol       Date:  2014-12       Impact factor: 2.521

4.  Wiedemann-Rautenstrauch syndrome.

Authors:  H V Toriello
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

5.  Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.

Authors:  H Arboleda; L Quintero; E Yunis
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

Review 6.  Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

Authors:  G Castiñeyra; M Panal; H Lopez Presas; E Goldschmidt; J M Sánchez
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

7.  A Case of Wiedemann-Rautenstrauch Syndrome With Fatal Hyperkalemic Renal Faliure.

Authors:  Mohamed A Ghamry; Rehab Salah; Eslam I Galal; Shereen Henin; Monica Dobs
Journal:  Cureus       Date:  2022-09-19
  7 in total

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