Premium
Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT , and molecular genetic analysis
Author(s) -
Zhang Weixia,
Xue Hongyuan,
Huang Dai,
Ye Yuquan,
Chen Xiao
Publication year - 2020
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22927
Subject(s) - apert syndrome , syndactyly , craniosynostosis , medicine , craniofacial , dysostosis , hypoplasia , skull , prenatal diagnosis , anatomy , craniofacial abnormality , etiology , pregnancy , fetus , pathology , surgery , genetics , congenital disease , biology , psychiatry
Apert syndrome is characterized by craniosynostosis, mid‐facial hypoplasia, and symmetric syndactyly. Prenatal diagnosis is challenging until the skull and facial anomalies become more pronounced during the third trimester. We present a case in which typical sonographic signs of Apert syndrome were observed after 23 weeks of gestation. Following termination of the pregnancy, both clinical features such as craniofacial abnormalities and syndactyly and cranial 3D‐CT images showed high correlation with the previous sonographic findings. Furthermore, genetic analysis revealed a spontaneous mutation, c.755C≥G (p.S252W), in the FGFR2 gene, with this mutation implicated in the etiology of Apert syndrome.