Literature DB >> 7551161

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

P Bitoun1, E Lachassine, N Sellier, S Sauvion, J Gaudelus.   

Abstract

We present the case of a post-term newborn with intrauterine growth retardation, pseudohydrocephalus, a tiny face and mouth, thin wrinkled skin, an aged appearance, lipoatrophy and a normal cranial CT scan, suggestive of the Wiedemann-Rautenstrauch neonatal progeroid syndrome. He developed hypothyroidism on day 18 due to a partial organification disorder as did a later born sib. His mental development remains normal at age 2 with delayed growth at -2.5 SD. The case is presented and discussed and the literature is reviewed.

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Year:  1995        PMID: 7551161

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  4 in total

1.  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

2.  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

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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