Literature DB >> 7262096

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

E A Devos, J G Leroy, J P Frijns, H Van den Berghe.   

Abstract

A 4-year-old girl is reported with a neonatally apparent progeroid syndrome. Parenteral consanguinity indicates autosomal recessive inheritance. Psychomotor development and physical growth are severely deficient. Mainly characterized by congenital absence of subcutaneous fat tissue, this child is very similar to four patients reported earlier and recognized as representing a newly delineated clinical entity, called here the Wiedemann-Rautenstrauch or neonatal progeroid syndrome.

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Year:  1981        PMID： 7262096     DOI： 10.1007/BF00442991

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


  4 in total

Review 1.  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

Review 2.  Generalized lipodystrophy.

Authors:  M Seip
Journal:  Ergeb Inn Med Kinderheilkd       Date:  1971

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

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

4.  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
  4 in total
  10 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.  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

3.  Wiedemann-Rautenstrauch syndrome.

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

4.  Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Authors:  Jennifer A Wambach; Daniel J Wegner; Nivedita Patni; Martin Kircher; Marcia C Willing; Dustin Baldridge; Chao Xing; Anil K Agarwal; Samantha A Schrier Vergano; Chirag Patel; Dorothy K Grange; Amy Kenney; Tasnim Najaf; Deborah A Nickerson; Michael J Bamshad; F Sessions Cole; Abhimanyu Garg
Journal:  Am J Hum Genet       Date:  2018-11-07       Impact factor: 11.025

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.  Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.

Authors:  A Superti-Furga; M Raghunath; P J Willems
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

8.  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

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

10.  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
  10 in total

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