Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology

Gabriele Tonni, Gianpaolo Grisolia, Maurizia Baldi, Maria Paola Bonasoni, Vladimiro Ginocchi, Liliam Cristine Rolo, Edward Araujo Júnior

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
JournalFetal and Pediatric Pathology
DOIs
Publication statusAccepted/In press - 2020

Keywords

  • Apert syndrome
  • chondral plate histology
  • craniosynostosis
  • CT-scan
  • FGFR2
  • prenatal ultrasound diagnosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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