February 19th, 2020

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Sonographic Findings and Progression of Skeletal Manifestations in Prenatally Diagnosed Apert Syndrome: A Report of 2 Cases
Authors:  Christy S. Stanley, M.S., CGC, Chad R. Haldeman-Englert, M.D., Brian C. Brost, M.D., and Heather L. Mertz, M.D.
BACKGROUND: Apert syndrome is a rare congenital malformation syndrome characterized by craniosynostosis, midface hypoplasia, syndactyly, intellectual disability, and occasional other anomalies. While Apert syndrome is characteristically diagnosed postnatally, prenatal diagnosis has been reported when there is a family history of the condition and, less commonly, in sporadically occurring cases.
CASES: We report 2 de novo cases of Apert syndrome detected prenatally through the progressive development of sonographic clinical features. Accurate diagnosis allowed for anticipatory guidance, counseling, and management by appropriate subspecialists.

CONCLUSION: Our cases demonstrate that craniosynostosis-associated fetal frontal bossing evolves throughout gestation. In addition, these cases illustrate that the skeletal manifestations of Apert syndrome can be subtle and difficult to fully appreciate at the time of the routine fetal anatomy ultrasound.
Keywords:  acrocephalosyndactylia; Apert syndrome; craniosynostosis; frontal bossing; genetic counseling; infant, newborn; mutation/genetics; pregnancy; pregnancy complications; prenatal diagnosis; prenatal ultrasonography; syndactyly
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