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Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome

Journal of Perinatology volume 34, pages 164–165 (2014)Cite this article

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The craniofacial CT scan demonstrates bicoronal synostosis with marked midface hypoplasia, with exophthalmos and hypertelorism. In addition, there was bilateral marked choanal stenosis. The pelvis (Figure 3) demonstrates squared-off iliac wings with small sciatic notches and narrowing of the lumbar interpediculate distances. Subsequently, the patient at 2 months of life underwent endoscopic release of bilateral coronal synostosis. A follow-up CT demonstrated the open sutures, but the interval development of hydrocephalus (Figure 2b). These findings are those of CDSS or Crouzon syndrome with AN (CAN).1, 2, 3

CDSS is an uncommon autosomal dominant condition with variable expressivity accounting for 1% to 2% of all craniosynostosis syndromes.4 CDSS has a female predominance of 2.4:1, although the manifestations are identical in male and female patients. CDSS is distinctly different from Crouzon syndrome with which it, however, shares phenotypic features. Crouzon syndrome is an autosomal dominant condition, in which 95% of cases are associated with mutations in exons IIIA and IIIC of the FGFR2 gene.5 CDSS is due to a characteristic mutation in the FGFR3 gene. The unique mutation accounting for CDSS is a change in a GCG sequence by a GAG sequence in nucleotide 1172 of FGFR3.

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References

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  1. Mallinckrodt Institute of Radiology, St Louis Children's Hospital, Washington University School of Medicine, St Louis, MO, USA

    T E Herman, K Sargar & M J Siegel

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  1. T E Herman
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  2. K Sargar
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  3. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Sargar, K. & Siegel, M. Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. J Perinatol 34, 164–165 (2014). https://doi.org/10.1038/jp.2013.139

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