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Pediatric Radiology

, Volume 46, Issue 5, pp 709–718 | Cite as

Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

  • Eva I. Rubio
  • Anna Blask
  • Dorothy I. Bulas
Original Article

Abstract

Background

Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management.

Objective

This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester.

Materials and methods

Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities.

Results

The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic “lampshade” contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester.

Conclusion

Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients.

Keywords

Apert syndrome Carpenter syndrome Craniosynostosis Fetus Magnetic resonance imaging Pfeiffer syndrome Syndactyly Ultrasound 

Notes

Compliance with ethical standards

Conflicts of interest

None

References

  1. 1.
    Lajeunie E, Le Merrer M, Bonaïti-Pellie C et al (1995) Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 55:500–504CrossRefPubMedGoogle Scholar
  2. 2.
    Nazzaro A, Della Monica M, Lonardo F et al (2004) Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. Prenat Diagn 24:918–922CrossRefPubMedGoogle Scholar
  3. 3.
    Boulet SL, Rasmussen SA, Honein MA (2008) A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet A 146A:984–991CrossRefPubMedGoogle Scholar
  4. 4.
    Aravidis C, Konialis CP, Pangalos CG et al (2014) A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. J Matern Fetal Neonatal Med 27:1502–1506CrossRefPubMedGoogle Scholar
  5. 5.
    Roscioli T, Elakis G, Cox TC et al (2013) Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C: Semin Med Genet 163C:259–270CrossRefGoogle Scholar
  6. 6.
    Wilcox WR, Tavormina PL, Krakow D et al (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet 78:274–281CrossRefPubMedGoogle Scholar
  7. 7.
    Vargervik K, Rubin MS, Grayson BH et al (2012) Parameters of care for craniosynostosis: dental and orthodontic perspectives. Am J Orthod Dentofacial Orthop 141:S68–73CrossRefPubMedGoogle Scholar
  8. 8.
    Tonni G, Panteghini M, Rossi A et al (2011) 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 283:909–916CrossRefPubMedGoogle Scholar
  9. 9.
    Fujimoto T, Imai K, Matsumoto H et al (2011) Tracheobronchial anomalies in syndromic craniosynostosis with 3-dimensional CT image and bronchoscopy. J Craniofac Surg 22:1579–1583CrossRefPubMedGoogle Scholar
  10. 10.
    Johnson D, Wilkie AO (2011) Craniosynostosis. Eur J Hum Genet 19:369–376CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    Moes JA, Boyle JG, Flanagan JD et al (2011) Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding. S D Med 64:125–127PubMedGoogle Scholar
  12. 12.
    David AL, Turnbull C, Scott R et al (2007) Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn 27:629–632CrossRefPubMedGoogle Scholar
  13. 13.
    Athanasiadis AP, Zafrakas M, Polychronou P et al (2008) Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal Diagn Ther 24:495–498CrossRefPubMedGoogle Scholar
  14. 14.
    Lee HJ, Cho DY, Tsai FJ et al (2001) Antley-Bixler syndrome, description of two new cases and review of the literature. Pediatr Neurosurg 34:33–39CrossRefPubMedGoogle Scholar
  15. 15.
    McGlaughlin KL, Witherow H, Dunaway DJ et al (2010) Spectrum of Antley-Bixler syndrome. J Craniofac Surg 21:1560–1564CrossRefPubMedGoogle Scholar
  16. 16.
    Stark Z, McGillivray G, Sampson A et al (2015) Apert syndrome: temporal lobe abnormalities on fetal brain imaging. Prenat Diagn 35:179–182CrossRefPubMedGoogle Scholar
  17. 17.
    Lertsburapa K, Schroeder JW Jr, Sullivan C (2010) Tracheal cartilaginous sleeve in patients with craniosynostosis syndromes: a meta-analysis. J Pediatr Surg 45:1438–1444CrossRefPubMedGoogle Scholar
  18. 18.
    Van Maldergem L, Siitonen HA, Jalkh N et al (2006) Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 43:148–152CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Dallapiccola B, Zelanta L, Mingarelli R et al (1992) Baller-Gerold syndrome: case report and clinical and radiological review. Am J Med Genet 42:365–368CrossRefPubMedGoogle Scholar
  20. 20.
    Wenger TL, Bhoj EJ, Wetmore RF et al (2015) Beare–Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve. Am J Med Genet A 167A:852–857CrossRefPubMedGoogle Scholar
  21. 21.
    Victorine AS, Weida J, Hines KA et al (2014) Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. Am J Med Genet A 164A:820–823CrossRefPubMedGoogle Scholar
  22. 22.
    Haye D, Collet C, Sembely-Taveau C et al (2014) Prenatal findings in Carpenter syndrome and a novel mutation in RAB23. Am J Med Genet A 164A:2926–2930CrossRefPubMedGoogle Scholar
  23. 23.
    Helman SN, Badhey A, Kadakia S et al (2014) Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. Oral Maxillofac Surg 18:373–379CrossRefPubMedGoogle Scholar
  24. 24.
    Nørgaard P, Hagen CP, Hove H et al (2012) Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings. Acta Radiol Short Rep 1(4)Google Scholar
  25. 25.
    Van Buggenhout G, Fryns J-P (2005) Jackson-Weiss Syndrome. https://www.orpha.net/data/patho/GB/uk-Jackson-WeissSyndrome2005.pdf. Accessed 16 Jul 2015
  26. 26.
    Cohen MM (1993) Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45:300–307CrossRefPubMedGoogle Scholar
  27. 27.
    Gómez-Gómez JL, Fernández-Alonso AM, Moreno-Ortega I et al (2013) Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks' gestation. J Obstet Gynaecol 33:309–310CrossRefPubMedGoogle Scholar
  28. 28.
    Spaggiari E, Aboura A, Sinico M et al (2012) Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. Eur J Med Genet 55:498–501CrossRefPubMedGoogle Scholar
  29. 29.
    Mathijssen IM, van Splunder J, Vermeij-Keers C et al (1999) Tracing craniosynostosis to its developmental stage through bone center displacement. J Craniofac Genet Dev Biol 19:57–63PubMedGoogle Scholar
  30. 30.
    Weber B, Schwabegger AH, Vodopiutz J et al (2010) Prenatal diagnosis of Apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. Fetal Diagn Ther 27:51–56CrossRefPubMedGoogle Scholar
  31. 31.
    Ludwig K, Salmaso R, Manara R et al (2012) Apert syndrome with fused thalami. Fetal Pediatr Pathol 31:410–414CrossRefPubMedGoogle Scholar
  32. 32.
    Khonsari RH, Delezoide A-L, Kang W et al (2012) Central nervous system malformations and deformations in FGFR2-related craniosynostosis. Am J Med Genet A 158A:2797–2806CrossRefPubMedGoogle Scholar
  33. 33.
    Taravath S, Tonsgard JH (1993) Cerebral malformations in Carpenter syndrome. Pediatr Neurol 9:230–234CrossRefPubMedGoogle Scholar
  34. 34.
    Chen CP, Su YN, Hsu CY et al (2010) Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18. Taiwan J Obstet Gynecol 49:129–132CrossRefPubMedGoogle Scholar
  35. 35.
    Noorily MR, Farmer DL, Belenky WM et al (1999) Congenital tracheal anomalies in the craniosynostosis syndromes. J Pediatr Surg 34:1036–1039CrossRefPubMedGoogle Scholar
  36. 36.
    Guimaraes CV, Linam LE, Kline-Fath BM et al (2009) Prenatal MRI findings of fetuses with congenital high airway obstruction sequence. Korean J Radiol 10:129–134CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  1. 1.Department of RadiologyChildren’s National Health SystemWashingtonUSA

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