Literature DB >> 7823529

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

T Rautenstrauch1, F Snigula, H R Wiedemann.   

Abstract

The diagnostic criteria of the neonatal progeroid syndrome (NPS) are: intrauterine and postnatal growth failure, hydrocephalic appearance, prominent scalp veins, old-looking face, absence of subcutaneous fat and neonatal teeth. Until now altogether nine cases have been reported, which were predominant diagnosed in infant age. The NPS is in general assigned to the autosomal recessive trait. With increasing age the outward appearance stays unchanged. The in 1977 under diagnose progeria presented patient is now 16 years old. With her a considerable atactic movement disturbance developed next to a psychomotoric retardation. The change in metabolism of proteoglycane that was remarkable in infant age is now no longer provable.

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Year:  1994        PMID: 7823529     DOI: 10.1055/s-2008-1046647

Source DB:  PubMed          Journal:  Klin Padiatr        ISSN: 0300-8630            Impact factor:   1.349


  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.  Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

Authors:  Abhimanyu Garg; Martin Kircher; Miguel Del Campo; R Stephen Amato; Anil K Agarwal
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

3.  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 4.  Congenital generalized lipodystrophies--new insights into metabolic dysfunction.

Authors:  Nivedita Patni; Abhimanyu Garg
Journal:  Nat Rev Endocrinol       Date:  2015-08-04       Impact factor: 43.330

  4 in total

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