ArticleAME case reports2026
Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation.
Article in AME case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Apert syndrome is a rare congenital malformation caused by a mutation in the fibroblast growth factor receptor 2 ( Case Description: We report an atypical case of Apert syndrome carrying the FGFR2 S252W mutation, which typically associated with severe cranial deformities and cleft palate, but prenatal ultrasound at 23 weeks revealed symmetrical syndactyly of both hands and feet and a sacrococcygeal soft tissue mass resembling a "tail" without cranial abnormalities. Although prior studies have linked this mutation to advanced paternal age, the father in this case was 25 years old, which does not align with this association. Conclusions: This case demonstrated that Apert syndrome may present prenatally features other than cranial abnormalities. A practical screening strategy should therefore combine detailed second-trimester ultrasound evaluation of extremities and cardiac structures with prenatal genetic testing, even in the absence of cranial abnormalities.
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