Your browser doesn't support javascript.
loading
Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report.
Souayeh, Nesrine; Marzouk, Asma; Rouis, Hadhami; Mbarki, Chaouki; Bettaieb, Hajer.
Afiliación
  • Souayeh N; Department of Gynecology and Obstetrics, Ben Arous Regional Hospital, Ben Arous, Tunisia; Faculty of Medicine, University of Tunis el Manar, Tunis, Tunisia. Electronic address: nesrine.souayeh@fmt.utm.tn.
  • Marzouk A; Faculty of Medicine, University of Tunis el Manar, Tunis, Tunisia; Department of Neonatology and Paediatrics, Ben Arous Regional Hospital, Ben Arous, Tunisia.
  • Rouis H; Department of Gynecology and Obstetrics, Ben Arous Regional Hospital, Ben Arous, Tunisia; Faculty of Medicine, University of Tunis el Manar, Tunis, Tunisia.
  • Mbarki C; Department of Gynecology and Obstetrics, Ben Arous Regional Hospital, Ben Arous, Tunisia; Faculty of Medicine, University of Tunis el Manar, Tunis, Tunisia.
  • Bettaieb H; Department of Gynecology and Obstetrics, Ben Arous Regional Hospital, Ben Arous, Tunisia; Faculty of Medicine, University of Tunis el Manar, Tunis, Tunisia.
Int J Surg Case Rep ; 122: 110134, 2024 Sep.
Article en En | MEDLINE | ID: mdl-39128215
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.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Int J Surg Case Rep Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Int J Surg Case Rep Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos