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Complex craniosynostosis in the context of Carpenter’s syndrome

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Abstract

Carpenter’s syndrome or acrocephalopolysyndactyly type II is a rare genetic autosomal recessive disease, with an incidence estimated at 1 per 1 million births. Common findings of a brachydactyly, polysyndactyly, and a trefoil-like skull with extreme brachycephaly due to fusion of the bilateral coronal, sagittal and lambdoid sutures. We report a 12-month-old male who was referred to our care for evaluation of a craniofacial deformity—a trefoil-like skull, flattened and receding forehead, bulging of temporal bones, hypertelorism, exorbitism, and polysyndactyly in the upper and lower limbs and psychomotor delay. Head computed tomography (CT) with 3D reconstruction revealed craniosynostosis with fusion of the coronal, metopic, and sagittal sutures. Correction of the craniofacial deformity was performed with satisfactory aesthesis of the craniofacial bones at 2 years of follow-up. Early correction of craniofacial deformity in Carpenter’s syndrome is usually safe within 6 to 12 months. Venous drainage abnormalities and ectatic emissary veins can lead to significant bleeding and may be detected on MR angiography. Significant skull weakening may lead to bony fragmentation while creating cranial flaps and is best evaluated with 3D CT imaging. Taking these pitfalls into consideration decreases the chances of aborting the surgery and may lead to better overall outcomes.

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References

  1. Jallo G, Kothbauer K, Recinos V (2018) Handbook of pediatric neurosurgery. Thieme Medical Publishers New York

  2. Kadakia S, Helman S, Healy N, Saman M, Wood-Smith D (2014) Carpenter syndrome: a review for the craniofacial surgeon. J Craniofac Surg 25:1653–1657

    Article  Google Scholar 

  3. Carpenter G (1909) Acrocephaly, with other congenital malformations. Proc R Soc Med 2:45–53

    CAS  PubMed  PubMed Central  Google Scholar 

  4. Alessandri J, Dagoneau N, Laville J, Baruteau J, Hébert J, Cormier-Daire V (2010) RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. Am J Med Genet A 152:982–986

    Article  Google Scholar 

  5. Bhardwaj M, Grange C (2013) Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Int J Obstet Anesth 22:251–254

    Article  CAS  Google Scholar 

  6. Giuffrè R, Vagnozzi R, Savino S (1978) Infantile craniosynostosis: clinical, radiological, and surgical considerations based on 100 surgically treated cases. Acta Neurochir (Wien) 44:49–67

    Article  Google Scholar 

  7. Hidestrand P, Vasconez H, Cottrill C (2009) Carpenter syndrome. J Craniofac Surg 20:254–256

    Article  Google Scholar 

  8. Poole M (1993) Surgical caution with Carpenter’s syndrome. J Craniomaxillofac Surg 21:93–95

    Article  CAS  Google Scholar 

  9. Taravath S, Tonsgard J (1993) Cerebral malformations in Carpenter syndrome. Pediatr Neurol 9:230–234

    Article  CAS  Google Scholar 

  10. Temtamy S (1966) Carpenter’s syndrome: acrocephalopolysyndactyly. An autosomal recessive syndrome. J Pediatr 69:111–120

    Article  CAS  Google Scholar 

  11. White J, Boldt D, David D, Sheffield L, Simpson D (1981) Carpenter syndrome with normal intelligence and precocious growth. Acta Neurochir (Wien) 57:43–49

    Article  CAS  Google Scholar 

  12. Ben-Salem S, Begum M, Ali B, Al-Gazali L (2013) A novel aberrant splice site mutation in RAB23 leads to an eight nucleotide deletion in the mRNA and is responsible for Carpenter syndrome in a Consanguineous Emirati Family. Molecular syndromology 3:255–261

    Article  CAS  Google Scholar 

  13. Jenkins D, Seelow D, Jehee F, Perlyn C, Alonso L, Bueno D, Donnai D, Josifova D, Mathijssen I, Morton J (2007) RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 80:1162–1170

    Article  CAS  Google Scholar 

  14. Cohen M Jr (1977) Genetic perspectives on craniosynostosis and syndromes with craniosynostosis. J Neurosurg 47:886–898

    Article  Google Scholar 

  15. Tarhan E, Oğuz H, Safak M, Samim E (2004) The Carpenter syndrome phenotype. Int J Pediatr Otorhinolaryngol 68:353–357

    Article  Google Scholar 

  16. Kalmar CL, Humphries LS, Mackay D, Vu GH, Zimmerman CE, Chen S-S, Heuer G, Storm PB, Bartlett SPP, Taylor JA (2020) Changes in intracranial pressure with craniosynostosis based on age at intervention, syndromic status, and multiple suture involvement. Plastic and Reconstructive Surgery-Global Open 8:24

    Article  Google Scholar 

  17. Kajdic N, Spazzapan P, Velnar T (2018) Craniosynostosis-recognition, clinical characteristics, and treatment. Bosn J Basic Med Sci 18:110–116

    PubMed  PubMed Central  Google Scholar 

  18. Mathijssen I (2015) Guideline for care of patients with the diagnoses of craniosynostosis: working group on craniosynostosis. J Craniofac Surg 26:1735–1807

    Article  Google Scholar 

  19. Laghmari M, Lmejjatti M, Ghannane H, Hajji I, Ali T, Moutaouakil A, Benali S (2011) Venous drainage disorders as a cause of severe chemosis following fronto-orbital advancement. Plast Reconstr Surg 127:988–989

    Article  CAS  Google Scholar 

  20. Wilkie A, Johnson D, Wall S (2017) Clinical genetics of craniosynostosis. Curr Opin Pediatr 29:622–628

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Neurosurgery, Arrazi Hospital VI University HospitalCadi Ayyad Université, Ibn Sina Avenue, Mohammed, BP2360, PrincipalMarrakesh, Morocco

    Fah Bouaré, Farouk Hajhouji, Houssine Ghannane & Said Ait Benali

  2. Department of Neurosurgery and Brain Repair, University of South Florida Morsani College of Medicine, Tampa, FL, USA

    Mohammad Hassan A. Noureldine

  3. Department of Neurosurgery, Johns Hopkins University School of Medicine, Johns Hopkins All Children’s Hospital, Saint Petersburg, Florida, USA

    George I. Jallo

Authors
  1. Fah Bouaré
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  2. Mohammad Hassan A. Noureldine
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  3. Farouk Hajhouji
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  4. Houssine Ghannane
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  5. George I. Jallo
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  6. Said Ait Benali
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Correspondence to Mohammad Hassan A. Noureldine.

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Bouaré, F., Noureldine, M.H.A., Hajhouji, F. et al. Complex craniosynostosis in the context of Carpenter’s syndrome. Childs Nerv Syst 38, 831–835 (2022). https://doi.org/10.1007/s00381-021-05288-4

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  • DOI: https://doi.org/10.1007/s00381-021-05288-4

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