Literature DB >> 34244844

Complex craniosynostosis in the context of Carpenter's syndrome.

Fah Bouaré1, Mohammad Hassan A Noureldine2, Farouk Hajhouji1, Houssine Ghannane1, George I Jallo3, Said Ait Benali1.   

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.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  Acrocephalopolysyndactyly type II; Carpenter’s syndrome; Craniofacial deformity; Craniosynostosis; Remodeling

Mesh:

Year:  2021        PMID: 34244844     DOI: 10.1007/s00381-021-05288-4

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


  2 in total

1.  Acrocephaly, with other Congenital Malformations.

Authors:  G Carpenter
Journal:  Proc R Soc Med       Date:  1909

Review 2.  Craniosynostosis - Recognition, clinical characteristics, and treatment.

Authors:  Nina Kajdic; Peter Spazzapan; Tomaz Velnar
Journal:  Bosn J Basic Med Sci       Date:  2018-05-20       Impact factor: 3.363

  2 in total

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