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Apert syndrome with omphalocele

Journal of Perinatology volume 30, pages 695–697 (2010)Cite this article

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The skeletal findings are those of Apert syndrome. Apert syndrome is a rare autosomal-dominant condition of craniosynostosis, craniofacial abnormalities and bilateral osseous and cutaneous syndactyly.1 The diagnosis of Apert syndrome was confirmed by gene analysis confirming the canonical Apert mutation S252W in the fibroblast growth factor receptor 2 (FGFR2) gene. This mutation and the P253 mutation in the same gene account for 98.6% of all cases of Apert syndrome.2 The patient has a giant omphalocele, or one containing most of the liver. To our knowledge, this is the first reported case of Apert syndrome with an omphalocele.

The patient will return at 2 months of age for cranioplasty and possible ventriculoperitoneal shunting. Hand reconstruction will begin at 6 months of age. The omphalocele has been treated conservatively with application of silver sulfadiazine cream to allow the formation of an eschar to close the abdominal wall until complete reconstruction at a later date. Because of choanal stenosis a tracheostomy tube was placed and a gastrosotomy tube was placed for nutrition.

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References

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Authors and Affiliations

  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Apert syndrome with omphalocele. J Perinatol 30, 695–697 (2010). https://doi.org/10.1038/jp.2010.72

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