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Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature

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Abstract

Introduction

Craniosynostosis is a condition characterized by a premature closure of one or more skull sutures and refers to a wide spectrum of cranial malformation with an estimated birth of 1:2,000–1:4,000 live births. Four receptors (FGFR 1, FGFR 2, FGFR 3, FGFR 4) involving mutation in the fibroblast growth factor have been identified.

Materials and methods

Two cases occurred in the same family and diagnosed prenatally by means of ultrasound, and antenatal and postnatal MR imaging are reported. Molecular biology regarding identification of craniosynostosis type has been analyzed. A revision of the medical literature is also provided.

Conclusion

The premature closure of sagittal suture is characterized by a disproportionately large occipito-frontal and short biparietal diameter (scaphocephaly). The prenatal ultrasound diagnosis of craniosynostosis in utero may be difficult and be suspected when the cephalic index, the cranial shape or the fetal face shape are abnormal. Fetal karyotype is recommended and DNA testing plays a critical role in achieving an appropriate diagnosis, when possible. The prognosis of craniosynostosis is primarily dependent on the presence of associated anomalies as craniosynostosis are correlated with three to fivefold increased risk for cognitive disabilities.

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References

  1. Cohen MM Jr (1993) Epidemiology of craniosynostosis. In: Craniosynostosis: diagnosis, evaluation and management, Chap. 10. Oxford University Press, New York, pp 103–111

  2. Singer S, Bower C, Southall P, Goldblatt J (1999) Craniosynostosis in western Australia 1980–1994: a population-based study. Am J Med Genet 23:382–387

    Article  Google Scholar 

  3. Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D (1996) Genetic study of scaphocephaly. Am J Med Genet 62:228–285

    Article  Google Scholar 

  4. Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B (2007) Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. Am J Med Genet A 143A:2937–2943

    Article  PubMed  Google Scholar 

  5. Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac C, Renier D (1995) Genetic study of non-syndromic coronal craniosynostosis. Am J Med Gen 55:500–504

    Article  CAS  Google Scholar 

  6. Nyberg DA, McGahan JP, Pretorius DH, Pilu G (2003) In: Diagnostic imaging of fetal anomalies, Chap. 5. Lippincott Williams and Wilkins. Philadelphia, PA, p 147

  7. Renier D, Le Merrer M, Arnaud E, Marchac D (2006) Etiologie des craniostènose. Neurochirurgie 52:228–237

    PubMed  CAS  Google Scholar 

  8. Wilkie AO (1997) Craniosynostosis: genes and mechanism. Hum Mol Genet 6:1647–1656

    Article  PubMed  CAS  Google Scholar 

  9. Mason IJ (1994) The in and out of fibroblast growth factor. Cell 78:547

    Article  PubMed  CAS  Google Scholar 

  10. Ciurea AV, Toader C (2009) Genetics of craniosynostosis: review of the literature. J Med Life 2:5–17

    PubMed  Google Scholar 

  11. Passos-Bueno MR, Sertiè AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF (1998) Description of a new mutation and characterization of FGFR1, FGFR2 and FGFR3 mutations among Brazilian patients with syndromic craniosynostosis. Am J Med Genet 78:237–241

    Article  PubMed  CAS  Google Scholar 

  12. Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW (1996) FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 58:491–498

    PubMed  CAS  Google Scholar 

  13. Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcom S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM (1997) Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet 34:632–636

    Article  PubMed  CAS  Google Scholar 

  14. Kan SH, Elanko N, Johnson D, Cornejo-Roldman L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO (2002) Genomic screening of fibroblast growth factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70:472–486

    Article  PubMed  CAS  Google Scholar 

  15. Vogels A, Fryns JP (2006) Pfeiffer syndrome. Orphanet J Rare Dis 1:19

    Google Scholar 

  16. Bernstein PS, Gross SJ, Cohen DJ, Tiller GR, Shanke AL, Bombard AT, Marion RW (1996) Prenatal diagnosis of type 2 Pfeiffer syndrome. Ultrasound Obstet Gynecol 8:425–428

    Article  PubMed  CAS  Google Scholar 

  17. Balumeiser B, Loquet P, Wuyts W, Nöthen MM (2004) Prenatal diagnosis of Pfeiffer syndrome type 2. Prenat Diagn 24:644–646

    Article  Google Scholar 

  18. Hackett A, Rowe L (2006) FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. Clin Dysmorphol 15:207–210

    Article  PubMed  Google Scholar 

  19. van Maldegrem L (1993) Baller-gerold syndrome [Internet]. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds) GeneReviews [Internet]. University of Washington, Seattle

  20. Johnson D (2003) A comprehensive screen of genes implicated in craniosynostosis. Ann R Coll Surg Engl 85:371–377

    Article  PubMed  Google Scholar 

  21. Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T (2004) Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. Am J Med Genet A 128A:214–216

    Article  PubMed  Google Scholar 

  22. Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI (2007) Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet A 143A:2931–2936

    Article  PubMed  Google Scholar 

  23. Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers HH, Kariminejad M (2009) Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A 149A:1544–1549

    Article  PubMed  CAS  Google Scholar 

  24. Li X, Ma L, Snead M, Hawoth I, Spakers R, Jackson C, Warman M, Mulliken J, Maxson R, Muller U, Jabs E (1993) A mutation in the homeodomain of the MSX2 gene in a family affected with craniosynostosis, Boston type. Am J Hum Genet 53:A213-only

  25. Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AOM (2006) Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet 14:151–158

    Article  PubMed  CAS  Google Scholar 

  26. Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G (2004) Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. Prenat Diagn 24:918–922

    Article  PubMed  Google Scholar 

  27. Romero R, Pilu G, Jeanty P (1988) In: Prenatal diagnosis of congenital anomalies, Chap. 10. Appleton and Lange, Norwalk, p 370

  28. Pooh RK, Nakagawa Y, Pooh KH, Nakagawa Y, Nagamachi N (1999) Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome. Ultrasound Obstet Gynecol 13:274–280

    Article  PubMed  CAS  Google Scholar 

  29. Skidmore DL, Pai AP, Toi A, Steele L, Chitayat D (2003) Prenatal diagnosis of Apert syndrome: report of two cases. Prenat Diagn 23:1009–1013

    Article  PubMed  Google Scholar 

  30. Kaufmann K, Baldinger S, Pratt L (1997) Ultrasound detection of Apert syndrome: a case report and literature review. Am J Perinatol 14:427–430

    Article  PubMed  CAS  Google Scholar 

  31. Ferreira JC, Carter SM, Bernstein PS, Jabs EW, Glickstein JS, Marion RW, Baergen RN, Gross SJ (1999) Second-trimester molecular prenatal diagnosis of syndromic Apert syndrome following suspicious ultrasound findings. Ultrasound Obstet Gynceol 14:426–430

    Article  CAS  Google Scholar 

  32. Mahieu-Caputo D, Sonigo P, Amiel J, Simon I, Aubry MC, Lemerrer M, Delezoide AL, Gigarel N, Dommergues M, Dumez Y (2001) Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology. Fetal Diagn Ther 16:10–12

    Article  PubMed  CAS  Google Scholar 

  33. Gorrincour G, Rypens F, Grignon A, Garel L, Bortoluzzi P, Oligny L, Lemyre E, Duperron L (2005) Prenatal diagnosis of cloverleaf skull: watch the hands. Fetal Diagn Ther 20:296–300

    Article  Google Scholar 

  34. Lyu KJ, Ko TM (2000) Prenatal diagnosis of Apert syndrome with widely separated cranial sutures. Prenat Diagn 20:254–256

    Article  PubMed  CAS  Google Scholar 

  35. Delahaye S, Bernard JP, Rénier D, Ville Y (2003) Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol 21:347–353

    Article  PubMed  CAS  Google Scholar 

  36. Benacerraf BR, Spiro R, Mitchell AG (2000) Using three dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. Ultrasound Obstet Gynecol 16:391–394

    Article  PubMed  CAS  Google Scholar 

  37. David AL, Turnbull C, Scott R, Freeman J, Bilardo CM, van Maarle M, Chitty LS (2007) Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn 27:629–632

    Article  PubMed  CAS  Google Scholar 

  38. Pretorius DH, Gattu S, Ek Ji, Hollenbach K, Newton R, Hull A, Carmona S, D’Agostino D, Nelson TR (2006) Preexamination and postexamination assessment of parental–fetal bonding in patients undergoing 3-/4-dimensional obstetrics ultrasonography. J Ultrasound Med 25:1411–1421

    PubMed  Google Scholar 

  39. Ji EK, Pretorius DH, Newton R, Uyan K, Hull AD, Hollenbach K, Nelson TR (2005) Effects of ultrasound on maternal–fetal bonding: a comparison of two- and three-dimensional imaging. Ultrasound Obstet Gynecol 25:473–477

    Article  PubMed  Google Scholar 

  40. Esser T, Rogalla P, Bamberg C, Kalache KD (2005) Application of the three-dimensional maximum mode in prenatal diagnosis of Apert syndrome. Am J Obstet Gynecol 193:1743–1745

    Article  PubMed  Google Scholar 

  41. Boog G, Le Vaillant C, Winer N, David A, Quere MP, Nomballais MF (1999) Contribution of tridimensional sonography and magnetic resonance imaging to prenatal diagnosis of Apert syndrome at mid-trimester. Fetal Diagn Ther 14:20–23

    Article  PubMed  CAS  Google Scholar 

  42. Chaoui R, Levaillant JM, Benoit B, Faro C, Wegrzyn P, Nicolaides KH (2005) Three-dimensional sonographic description of abnormal metopic suture in second- and third-trimester fetuses. Ultrasound Obstet Gynecol 26:761–764

    Article  PubMed  CAS  Google Scholar 

  43. Faro C, Chaoui R, Wegrzyn P, Levaillant JM, Benoit B, Nicolaides KH (2006) Metopic suture in fetuses with Apert syndrome at 22–27 weeks of gestation. Ultrasound Obstet Gynecol 27:28–33

    Article  PubMed  CAS  Google Scholar 

  44. Ferreira JC, Carter SM, Bernstein PS, Jabs EW, Glickstein JS, Marion RW, Baergen RN, Gross SJ (1999) Second trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. Ultrasound Obstet Gynecol 14:426–430

    Article  PubMed  CAS  Google Scholar 

  45. Bernard JP, Levaillant JM (2006) Diagnostic prenatal de craniosténose. Neurochirurgie 52:246–258

    PubMed  CAS  Google Scholar 

  46. Fjørtoft MI, Sevely A, Boetto S, Kessler S, Sarramon MF, Rolland M (2007) Prenatal diagnosis of craniosynostosis: value of MR imaging. Neuroradiology 49:515–521

    Article  PubMed  Google Scholar 

  47. Itoh S, Nojima M, Yoshida K (2006) Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero. Fetal Diagn Ther 21:168–171

    Article  PubMed  Google Scholar 

  48. Weber B, Schwabegger AH, Vodopiutz J, Janecke AR, Forstner R, Steiner H (2010) Prenatal diagnosis of Apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. Fetal Diagn Ther 27:51–56

    Article  PubMed  Google Scholar 

  49. Miller E, Ben-Sira L, Constantini S, Beni-Adani L (2006) Impact of prenatal magnetic resonance imaging on postnatal neurosurgical treatment. J Neurosurg 105:203–209

    PubMed  Google Scholar 

  50. Rogers GF, Proctor MR, Mulliken JB (2002) Unilateral fusion of the frontosphenoidal suture: a rare cause of synoptic frontal plagiocephaly. Plast Reconstr Surg 110:1011–1021

    Article  PubMed  Google Scholar 

  51. de Ribaupierre S, Czorny A, Pittet B, Jacques B, Rilliet B (2007) Frontosphenoidal synostosis; a rare cause of unilateral anterior plagiocephaly. Childs Nerv Syst 23:1431–1438

    Article  PubMed  Google Scholar 

  52. Mathijssen JM, van der Meulen JJ, van Adrichem LN, Vaandrager JM, van der Hulst RR, Lequin MH, Vermeij-Keers C (2008) The frontosphenoidal suture: fetal development and phenotype of its synostosis. Pediatr Radiol 38:431–437

    Article  PubMed  Google Scholar 

  53. Marucci DD, Jones BM, Dunaway DJ, Hayward RD (2009) Unilateral isolated frontosphenoidal craniosynostosis causing frontal plagiocephaly. J Plat Reconstr Aesthet Surg 62:e255–e258

    Article  Google Scholar 

  54. Plooij JM, Verhamme Y, Bergè SJ, van Lindert EJ, Bortstlap-Engels VM, Bortslap WA (2009) Unilateral craniosynostosis of the frontosphenoidal suture: a case report and a review of literature. J Craniomaxillofac Surg 37:162–166

    PubMed  Google Scholar 

  55. Weber B, Schwabegger AH, Oberaigner W, Rumer-Moser A, Steiner H (2010) Incidence of perinatal complications in children with premature craniosynostosis. J Perinat Med 38:319–325

    Article  PubMed  Google Scholar 

  56. Renier D, Arnaud E, Marchac D (2006) Craniosténose: resultats fonctionnels et morphologiques post-opératoires. Neurochirurgie 52:302–310

    PubMed  CAS  Google Scholar 

  57. Cohen MM (2005) Editorial: perspectives on craniosynostosis. Am J Med Genet 136A:313–326

    Article  PubMed  Google Scholar 

  58. Cinalli G, Spennato P, Sainte-Rose C, Arnaud E, Aliberti F, Brunelle F, Cianciulli E, Renier D (2005) Chiari malformation in craniosynostosis. Childs Nerv Systm 10:889–901

    Article  Google Scholar 

  59. Collmann H, Sörensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Child Nerv Syst 21:902–912

    Article  CAS  Google Scholar 

  60. Williams JK, Ellenbogen RG, Gruss JS (1999) State of the art in craniofacial surgery: nonsyndromic craniosynostosis. Cleft Palate Craniofac J 36:471–485

    Article  PubMed  CAS  Google Scholar 

  61. Marentette LJ, Kim JY (2001) Correction of nonsyndromal craniosynostosis. Facial Plast Surg Clin North Am 9:93–99

    PubMed  CAS  Google Scholar 

  62. Panchal J, Uttchin V (2003) Management of craniosynostosis. Plast Reconstr Surg 111:2032–2048

    Article  PubMed  Google Scholar 

  63. Persing JA (2008) MOC-PS(SM) CME article: management considerations in the treatment of craniosynopstosis. Plast Reconstr Surg 121:1–11

    Article  PubMed  Google Scholar 

  64. Wan DC, Kwan MD, Lorenz HP, Longaker MT (2008) Current treatment of craniosynostosis and future therapeutic directions. Front Oral Biol 12:209–230

    Article  PubMed  Google Scholar 

  65. Speltz ML, Kapp-Simon KA, Cummingham M, Marsh J, Dawson G (2004) Single-suture craniosynostosis: a review of neurobehavioral research and theory. J Pediatr Psychol 29:651–668

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Division of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, AUSL Reggio Emilia, Via Donatori Sangue, 1, 42016, Guastalla (Reggio Emilia), Italy

    Gabriele Tonni & Marco Panteghini

  2. Neuroradiology Service, Gaslini Pediatric Hospital, Genoa, Italy

    Andrea Rossi

  3. Molecular Biology Service, Galliera Hospital, Genoa, Italy

    Maurizia Baldi

  4. Neonatal Intensive Care Unit, University of Parma, Parma, Italy

    Cinzia Magnani

  5. Department of Obstetrics and Gynecology, University of Parma, Parma, Italy

    Bruno Ferrari

  6. Prenatal Diagnostic Service, Department of Obstetrics and Gynecology, Galliera Hospital, Genoa, Italy

    Mario Lituania

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  1. Gabriele Tonni
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  2. Marco Panteghini
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  3. Andrea Rossi
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  4. Maurizia Baldi
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  5. Cinzia Magnani
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  6. Bruno Ferrari
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  7. Mario Lituania
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Correspondence to Gabriele Tonni.

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Tonni, G., Panteghini, M., Rossi, A. et al. Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature. Arch Gynecol Obstet 283, 909–916 (2011). https://doi.org/10.1007/s00404-010-1643-6

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  • DOI: https://doi.org/10.1007/s00404-010-1643-6

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