Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report

Abstract

Introduction and importance: Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, and syndactyly. Prenatal diagnosis of this condition can be challenging. This case report highlights the importance of recognizing characteristic ultrasound findings for timely diagnosis and genetic counselling.

Case presentation: A 37-year-old, gravida 1, para 0 woman underwent a routine third-trimester ultrasound at 31 weeks gestation. The examination revealed significant hydramnios, bilateral hand syndactyly, foot abnormalities, and an unusual head shape with a prominent forehead, flat occiput, hypertelorism, and low-set ears. These findings raised suspicion for Apert syndrome. Subsequent molecular analysis confirmed a mutation in the FGFR2 gene, confirming the diagnosis. Three-dimensional (3D) ultrasound imaging was utilized to provide the parents with a clearer understanding of the foetal anomalies, aiding in their decision-making process. Given the high risk of impaired intellectual development and the complexity of its management, the pregnancy was terminated at 33 weeks' gestation.

Clinical discussion: This case emphasizes the role of comprehensive prenatal ultrasound in identifying potential foetal anomalies, even in the absence of prior risk factors. Characteristic sonographic findings, such as craniosynostosis, syndactyly, and hydramnios, should raise suspicion for the diagnosis, even in the absence of family history. Molecular confirmation through FGFR2 gene testing is essential for definitive diagnosis and informed genetic counselling.

Conclusion: While Apert syndrome is rare, recognizing its characteristic sonographic features can facilitate timely diagnosis. The use of 3D ultrasound imaging can be invaluable in enhancing parental understanding and facilitating informed decision-making.

Keywords: 3D ultrasound; Apert syndrome; Case report; Low-middle income country; Prenatal diagnosis.

Fig. 1

Third-trimester ultrasound findings showing midface hypoplasia with a prominent forehead in 3D (A) and 2D (B), low-set ears (C), hypertelorism, (D) bilateral syndactyly of both hands (mitten hands) appearance) (E), and deformed feet (F).

Fig. 2

Comparison between 3D ultrasound findings and macroscopic fetal examination showing the same facial dysmorphia (A) and limb abnormalities (B, C).