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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Jun;29(6):434–436. doi: 10.1136/jmg.29.6.434

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

G Castiñeyra 1, M Panal 1, H Lopez Presas 1, E Goldschmidt 1, J M Sánchez 1
PMCID: PMC1016001  PMID: 1619643

Abstract

A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome.

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Selected References

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  1. Devos E. A., Leroy J. G., Frijns J. P., Van den Berghe H. The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. Eur J Pediatr. 1981 Jul;136(3):245–248. doi: 10.1007/BF00442991. [DOI] [PubMed] [Google Scholar]
  2. Martin J. J., Ceuterick C. M., Leroy J. G., Devos E. A., Roelens J. G. The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. Neuropediatrics. 1984 Feb;15(1):43–48. doi: 10.1055/s-2008-1052339. [DOI] [PubMed] [Google Scholar]
  3. Rautenstrauch T., Snigula F. Progeria: a cell culture study and clinical report of familial incidence. Eur J Pediatr. 1977 Jan 26;124(2):101–111. doi: 10.1007/BF00477545. [DOI] [PubMed] [Google Scholar]
  4. Rudin C., Thommen L., Fliegel C., Steinmann B., Bühler U. The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature. Eur J Pediatr. 1988 May;147(4):433–438. doi: 10.1007/BF00496430. [DOI] [PubMed] [Google Scholar]
  5. Snigula F., Rautenstrauch T. A new neonatal progeroid syndrome. Eur J Pediatr. 1981 Jul;136(3):325–325. doi: 10.1007/BF00443003. [DOI] [PubMed] [Google Scholar]
  6. Toriello H. V. Wiedemann-Rautenstrauch syndrome. J Med Genet. 1990 Apr;27(4):256–257. doi: 10.1136/jmg.27.4.256. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Wiedemann H. R. An unidentified neonatal progeroid syndrome: follow-up report. Eur J Pediatr. 1979 Jan 18;130(1):65–70. doi: 10.1007/BF00441901. [DOI] [PubMed] [Google Scholar]

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