TY - JOUR
T1 - Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome
T2 - Case Report with Postmortem CT-Scan and Chondral Plate Histology
AU - Tonni, Gabriele
AU - Grisolia, Gianpaolo
AU - Baldi, Maurizia
AU - Bonasoni, Maria Paola
AU - Ginocchi, Vladimiro
AU - Rolo, Liliam Cristine
AU - Araujo Júnior, Edward
N1 - Publisher Copyright:
© 2020, © 2020 Taylor & Francis Group, LLC.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020
Y1 - 2020
N2 - Background: Apert syndrome is characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly. Case report: A 36-year-old mother, G2P1 underwent an ultrasound scan at 19 week's gestation. There was craniosynostosis, brachi-turricephaly and bilateral hand syndactyly. Genomic DNA from amniocentesis revealed the mutation C758C>Gp. (Pro to Arg substitution) at 252 of the exon 8 of the FGFR2 encoding for Apert syndrome. The pregnancy was terminated. Femoral chondral plate histology showed an increased interstitial matrix between bony trabeculae. Compared with normal, the trabeculae were thinner, more irregular with numerous osteoclasts suggesting abnormal bone remodeling. Hands and feet had an abrupt transition between resting and proliferating cartilage. Conclusion: Apert syndrome has increased intertrabecular matrix, thin trabeculae, increased remodeling, and irregular transition between the maturing and mineralization zones in the femur, and abnormal abrupt transition between the resting and proliferating cartilage in the fingers and toes.
AB - Background: Apert syndrome is characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly. Case report: A 36-year-old mother, G2P1 underwent an ultrasound scan at 19 week's gestation. There was craniosynostosis, brachi-turricephaly and bilateral hand syndactyly. Genomic DNA from amniocentesis revealed the mutation C758C>Gp. (Pro to Arg substitution) at 252 of the exon 8 of the FGFR2 encoding for Apert syndrome. The pregnancy was terminated. Femoral chondral plate histology showed an increased interstitial matrix between bony trabeculae. Compared with normal, the trabeculae were thinner, more irregular with numerous osteoclasts suggesting abnormal bone remodeling. Hands and feet had an abrupt transition between resting and proliferating cartilage. Conclusion: Apert syndrome has increased intertrabecular matrix, thin trabeculae, increased remodeling, and irregular transition between the maturing and mineralization zones in the femur, and abnormal abrupt transition between the resting and proliferating cartilage in the fingers and toes.
KW - Apert syndrome
KW - chondral plate histology
KW - craniosynostosis
KW - CT-scan
KW - FGFR2
KW - prenatal ultrasound diagnosis
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U2 - 10.1080/15513815.2020.1775732
DO - 10.1080/15513815.2020.1775732
M3 - Article
C2 - 32538685
AN - SCOPUS:85086905496
JO - Fetal and Pediatric Pathology
JF - Fetal and Pediatric Pathology
SN - 1551-3815
ER -