NAGER SENDROMU VE EBELİK BAKIMI: VAKA SUNUMU

Yıl 2025, Cilt: 5 Sayı: 1, 120 - 127, 31.01.2025

Hilal Özbek , Meltem Öztürk

https://doi.org/10.52369/togusagbilderg.1510723

Öz

Nager tipi akrofasiyal disostoz (NAFD) nadir görülen ve karakteristik uzuv anormallikleriyle kendini gösteren bir genetik bozukluktur. İlk vaka 1908 yılında Slingenberg tarafından ortaya koyulmuş olup az rastlanan ve zor tanı konulan sendrom olmaya devam etmektedir. Vakamızda belirgin retrognati, yarık damak, düşük kulak, baş parmak ve radius yokluğu, kısa kol-kol deformitesi mevcuttur. Sağ elde ise 3. ve 4. parmakta sindaktili mevcuttur. Vakamızda vertebra anomalisi de bulunmaktadır. Literatürde az rastlanan Nager sendromu ile ilgili daha önce bildirilmiş vakalarla benzer özellikler taşımaktadır. Nager sendromu, karakteristik malformasyonları ile tanınır. Bu vakada, nadir görülen bir sendrom olan Nager Sendronu ve ebelik bakımına dikkat çekmek amaçlanmıştır.

Anahtar Kelimeler

Nager sendromu, ebelik, yenidoğan, yenidoğan yoğun bakım

NAGER SYNDROME AND MIDWIFERY CARE: CASE REPORT

Öz

Nager-type acrofacial dysostosis (NAFD) is a rare genetic disorder characterized by characteristic limb abnormalities. The first case was described by Slingenberg in 1908 and it remains a rare and difficult to diagnose syndrome. Our case had marked retrognathia, cleft palate, low ear, absence of thumb and radius, and short arm-limb deformity. On the right hand, there is syndactyly of the 3rd and 4th fingers. Our case also had vertebral anomaly. It has similar features with previously reported cases of Nager syndrome, which is rare in the literature. Nager syndrome is recognized by its characteristic malformations. This case aims to draw attention to Nager Syndrome, a rare syndrome, and midwifery care.

Anahtar Kelimeler

Nager syndrome, midwifery, neonatal, neonatal intensive care

Kaynakça

• 1. Kara Uzun A, Ünal SO, Dilmen U. Farklı Bir Nager Tipi Akrofasiyal Disostoz Olgusu. Türkiye Çocuk Hast Derg 2010; 4:179–182.
• 2. Tos T, Alp MY, Doğusan R. Nager Sendromu’nun Konjenital Kalp Defektleri ile Birlikteliği: Nadir Bir Olgu Sunumu. Ege Klinikleri Tıp Dergisi 2013;51:29.
• 3. Carlsson IM, Ziegert K, Nissen E. The relationship between childbirth self-efficacy and aspects of well-being, birth interventions and birth outcomes. Midwifery 2015;31:1000–1007. doi:10.1016/J.MIDW.2015.05.005
• 4. Wu CC, Sakahara D, Imai K. Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review. Journal of Plastic, Reconstructive and Aesthetic Surgery 2017;70:1449–1456. doi:10.1016/j.bjps.2016.12.014
• 5. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes nager syndrome. Am J Hum Genet 2012;90:925–933. doi:10.1016/j.ajhg.2012.04.004
• 6. Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K. Children with Rare Nager Syndrome—Literature Review, Clinical and Physiotherapeutic Management. Genes 2023;15:29. doi:10.3390/GENES15010029.
• 7. Lansinger Y, Rayan G. Nager syndrome. Journal of Hand Surgery 2015;40:851–854.
• 8. Gözü Pirinççioğlu A, Kocamaz H, Güneş A, Yel S, Tutanç M, Gürkan F. Goldenhar sendromlu bir olgu sunumu. The Medical Journal of Mustafa Kemal University 2010;1:179–182. (https://dergipark.org.tr/en/pub/mkutfd/issue/19585/209273, accessed 4 July 2024).
• 9. Lin JL. Nager Syndrome: A Case Report. Pediatr Neonatol 2012;53:147–150.
• 10. Avcı Ş, Toksoy G, Bağırova G, Altunoğlu U, Karaman B, Başaran S et al. Radiyal Işın Defektlerinin Klinik Sınıflandırması ve Etyopatogenezinin Araştırılması. İst Tıp Fak Derg 2018;81:127–138. doi:10.26650/IUITFD.427250.
• 11. Chummun S, McLean NR, Anderson PJ, Van Nieuwenhoven C, Mathijssen I, David DJ. The craniofacial and upper limb management of nager syndrome. Journal of Craniofacial Surgery 2016;27:932–937.
• 12. Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K. Children with Rare Nager Syndrome—Literature Review, Clinical and Physiotherapeutic Management. Genes (Basel) 2024;15.
• 13. Maharana SK, Saint-Jeannet JP. Molecular mechanisms of hearing loss in Nager syndrome. Dev Biol 2021;476:200–208.