Literature DB >> 9152846

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

H Arboleda1, L Quintero, E Yunis.   

Abstract

Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome.

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Year:  1997        PMID: 9152846      PMCID: PMC1050956          DOI: 10.1136/jmg.34.5.433

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


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

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

3.  The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature.

Authors:  P Bitoun; E Lachassine; N Sellier; S Sauvion; J Gaudelus
Journal:  Clin Dysmorphol       Date:  1995-07       Impact factor: 0.816

4.  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

5.  A new neonatal progeroid syndrome.

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

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.  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

Review 9.  The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature.

Authors:  C Rudin; L Thommen; C Fliegel; B Steinmann; U Bühler
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

Review 10.  [Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study].

Authors:  T Rautenstrauch; F Snigula; H R Wiedemann
Journal:  Klin Padiatr       Date:  1994 Nov-Dec       Impact factor: 1.349

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  4 in total

1.  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

2.  Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.

Authors:  Stefanie Perrier; Laurence Gauquelin; Jennifer A Wambach; Geneviève Bernard
Journal:  Am J Med Genet A       Date:  2021-11-12       Impact factor: 2.802

3.  LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

Authors:  Henian Cao; Robert A Hegele
Journal:  J Hum Genet       Date:  2003-04-03       Impact factor: 3.172

4.  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
  4 in total

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