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Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion

  • Case Report
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Abstract

Case report

We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in human cranial bone and sagittal suture development and could play an important role in CS.

Conclusions

Clinicians should always contemplate genetic studies in patients with syndromic CS. Mutational targeted genetic testing is appropriate for patients with classical or specific CS syndrome. Nevertheless, array comparative genomic hybridization (array CGH) should be considered as a first-line test in nontypical syndromic CS phenotype. Cytogenetic studies are decisive for genetic counseling indeed.

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Authors and Affiliations

  1. Pediatric Neurology Unit, Hospital Universitario Quirón Madrid, C/Diego de Velazquez 1, 28024, Pozuelo de Alarcón, Madrid, Spain

    Alberto Fernández-Jaén, Ana Laura Fernández-Perrone & Daniel Martín Fernández-Mayoralas

  2. Pediatric Primary Care, Doctor Cirajas Healthcare Center, Madrid, Spain

    Beatriz Calleja-Pérez

  3. Genetics Department, Circagen, Madrid, Spain

    María del Carmen Sánchez-Hombre & Ester Corbacho Fernández

  4. Department of Biological and Health Psychology, School of Psychology, Autonoma University of Madrid, Madrid, Spain

    Sara López-Martín

Authors
  1. Alberto Fernández-Jaén
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  2. Ana Laura Fernández-Perrone
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  3. Daniel Martín Fernández-Mayoralas
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  4. Beatriz Calleja-Pérez
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  5. María del Carmen Sánchez-Hombre
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  6. Ester Corbacho Fernández
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  7. Sara López-Martín
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Correspondence to Alberto Fernández-Jaén.

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Fernández-Jaén, A., Fernández-Perrone, A.L., Fernández-Mayoralas, D.M. et al. Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion. Childs Nerv Syst 30, 2157–2161 (2014). https://doi.org/10.1007/s00381-014-2474-8

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  • DOI: https://doi.org/10.1007/s00381-014-2474-8

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