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Wiedemann–Rautenstrauch syndrome prenatal diagnosis

Journal of Perinatology volume 34, pages 954–956 (2014)Cite this article

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In prenatal ultrasound follow-up an intrauterine growth restriction was identified. At 32 weeks new central nervous system findings were detected: hypoechoic frontal cortex images suggestive of bilateral porencephalic cysts (Figure 2c) and first cervical vertebra dysraphism with dura mater bulging (Figure 2d).

At 35 weeks intrauterine growth restriction and Doppler evaluation defined cesarean section. A male baby of 1410 g and 44 cm height was born. Apgar score was 8 at 1 min and 9 at 5 min. Minor respiratory distress was solved with cephalic oxygen chamber. Anthropometric measurements were cephalic perimeter 29 cm (P<5), 44 cm height (P 10 to 25), inner canthal distance 1.6 cm (P 3), interpupillary distance 3 cm (P<3), outer canthal distance 4.6 cm (P 3 to 50), palpebral fissures 1.2 cm (P<3), labial intercommissure 1.8 cm (P<3), total ear length 2.4 cm (P<3), total hand length 6 cm (P 50 to 97) and middle finger length 2.5 cm (P 50 to 97); lower segment length 19.6 cm, upper segment length 24.4 cm and upper/lower segments ratio 1.24 (normal range 1.65 to 1.70); feet length 7 cm (P 50 to 75) and penis length 1.6 cm (P<3).

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References

  1. Arboleda G, Ramírez N, Arboleda H . Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. Am J Med Genet 2011; 155A: 1712–1715.

    Article  Google Scholar 

  2. Arboleda H, Arboleda G . Follow-up study of Wiedemann-Rautenstrauch syndrome: long-term survival and comparison with Rautenstrauch’s patient ‘G’. Birth Defects Res A Clin Mol Teratol 2005; 73: 562–568.

    Article  CAS  Google Scholar 

  3. Arboleda H, Quintero L, Yunis E . Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. J Med Genet 1997; 34: 433–437.

    Article  CAS  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; 147: 433–438.

    Article  CAS  Google Scholar 

  5. Toriello HV . Wiedemann-Rautenstrauch syndrome. J Med Genet 1990; 27: 256–257.

    Article  CAS  Google Scholar 

  6. Rautenstrauch T, Snigula F, Wiedemann H-R . Neonatales progeroides Syndrom (Wiedemann-Rautenstrauch). Eine follow-up-Studie. Klin Padiatr 1994; 206: 440–443.

    Article  CAS  Google Scholar 

  7. Hou J-W . Natural course of neonatal progeroid syndrome. Pediatr Neonatol 2009; 50: 102–109.

    Article  Google Scholar 

  8. Devos EA, Leroy JG, Frijns JP, Van den Berghe H . The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. Eur J Pediatr 1981; 136: 245–248.

    Article  CAS  Google Scholar 

  9. Korniszewski L, Nowak R, Oknińska-Hoffmann E, Skórka A, Gieruszczak-Bialek D, Sawadro-Rochowska M . Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts. Am J Med Genet 2001; 103: 144–178.

    Article  CAS  Google Scholar 

  10. Arboleda G, Ramírez N, Arboleda H . The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? Exp Gerontol 2007; 42: 939–943.

    Article  CAS  Google Scholar 

  11. Morales LC, Arboleda G, Rodríguez Y, Forero D, Ramírez N, Yunis JJ et al. Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. Am J Med Genet 2009; 149A: 2695–2699.

    Article  CAS  Google Scholar 

  12. Castiñeyra G, Panal M, López H, Goldschmidt E, Sánchez JM . Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. J Med Genet 1992; 29: 434–436.

    Article  Google Scholar 

  13. Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H et al. De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. Am J Hum Genet 2012; 90: 86–90.

    Article  CAS  Google Scholar 

  14. Kiraz A, Ozen S, Tubas F, Usta Y, Aldemir O, Alanay Y . Wiedemann-Rautenstrauch syndrome: report of a variant case. Am J Med Genet 2012; 158A: 1434–1436.

    Article  Google Scholar 

  15. Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A et al. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 30 end of FBN1 gene. Eur J Med Genet 2014; 57: 230–234.

    Article  Google Scholar 

  16. Tunc T, Bulbul A, Erdinc K, Sarici SU, Gul D, Ozcan O . The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. Genet Couns 2009; 20: 367–371.

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Maternal-Fetal Unit, Medicine School, Health Faculty, Universidad Industrial de Santander, Bucaramanga, Colombia

    C H Becerra, G A Contreras-García, L A Díaz-Martínez, M A Beltran Avendaño & H A Salazar Martínez

  2. Department of Pediatrics, Medicine School, Health Faculty, Universidad Industrial de Santander, Bucaramanga, Colombia

    G A Contreras-García, L A Perez Vera & L A Díaz-Martínez

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  1. C H Becerra
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  2. G A Contreras-García
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  3. L A Perez Vera
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  4. L A Díaz-Martínez
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  5. M A Beltran Avendaño
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Correspondence to C H Becerra.

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Becerra, C., Contreras-García, G., Perez Vera, L. et al. Wiedemann–Rautenstrauch syndrome prenatal diagnosis. J Perinatol 34, 954–956 (2014). https://doi.org/10.1038/jp.2014.156

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