TY  - JOUR
AU  - Kornutii, Anastasiia
AU  - Kornutii, Oleksandr
AU  - Shymanska, Ivanna
AU  - Bondarenko, Maiia
AU  - Prokopchuk, Natalia
PY  - 2026
DA  - 2026/04/13
TI  - A Case of Prenatal Diagnosis of Apert Syndrome in the Second Trimester of Pregnancy
JO  - OBM Genetics
SP  - 335
VL  - 10
IS  - 02
AB  - Craniosynostosis is a disorder characterized by premature closure of cranial sutures, resulting in restricted skull growth perpendicular to the affected suture and compensatory growth in other directions. Over 180 syndromes have been classified under craniosynostosis, of which eight are associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene: isolated coronal synostosis, Pfeiffer syndrome, Crouzon syndrome, Apert syndrome, Beare–Stevens syndrome, Jackson–Weiss syndrome, Crouzon syndrome with acanthosis nigricans, and Muenke syndrome. Apert syndrome (acrocephalosyndactyly type I) accounts for approximately 4.5% of all craniosynostosis cases, with a prevalence ranging from 1 to 15 per 100,000-160,000 live births. In Ukraine, the prevalence of this syndrome has not been studied. Although the causative gene has been identified, the precise role of FGFR2 mutations in craniofacial dysmorphology and related anomalies remains under investigation. Much of the current understanding of this rare disorder has been facilitated through mouse models. In this report, we present a rare case of prenatally diagnosed Apert syndrome during the second trimester of pregnancy in a young couple with a history of primary infertility and two early pregnancy losses. Postmortem molecular analysis of placental chorionic cells identified a pathogenic FGFR2 mutation (c.755C>G; p.Ser252Trp), enabling precise confirmation of the diagnosis.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2602335
DO  - 10.21926/obm.genet.2602335
ID  - Kornutii2026
ER  -