Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings
نویسندگان
چکیده
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare condition with an approximate prevalence of 1 per 1 million newborns. We add the first report on prenatal 2D and 3D ultrasound findings in CAN. In addition we present the postnatal 3D CT findings. The diagnosis was confirmed by molecular testing.
منابع مشابه
Crouzon syndrome in association with acanthosis nigricans
Crouzon syndrome is a rare inherited autosomal dominant syndrome characterized by craniosynostosis, midface hypoplasia. Acanthosis nigricans may be associated with Crouzon syndrome, but it differs from the classic crouzon syndrome. This is a report of a 30-year-old-woman who presented acanthosis nigricans coexist with crouzon syndrome.
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IMPORTANCE Crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. Other cutaneous findings have not been thoroughly described. OBSERVATIONS We report 6 cases and summarize the existing literature with regard to the cutaneous manifestat...
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The combination of Crouzon syndrome with acanthosis nigricans is unusual. The incidence of this combination is still uncertain, and there are only 30 cases reported in the medical literature. Crouzon syndrome is caused by mutation of the gene FGFR3 (fibroblast growth factor receptor 3). In this gene, other mutations can cause a kind of nanism that is lethal during the first weeks of life. Recen...
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