Acta Medica Okayama volume73 issue3
2019-06 発行

A Case of Nager Syndrome Diagnosed Before Birth

Hayata, Kei Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Masuyama, Hisashi Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Eto, Eriko Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Mitsui, Takashi Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Tamada, Shoko Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Eguchi, Takeshi Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Maki, Jota Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Tani, Kazumasa Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Ohira, Akiko Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Washio, Yosuke Department Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Yoshimoto, Junko Department Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Hasegawa, Kosei Department Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
Publication Date
2019-06
Abstract
Nager syndrome is a rare disease involving severe micrognathia and upper limb shortening. In this report, we describe a case in which micrognathia of the fetus was suspected based on the observation of upper limb shortening during detailed B mode and 3D/4D ultrasonographic observation, and combined fetal MRI and 3D-CT led to a prenatal diagnosis of Nager syndrome. Upon birth, because severe micrognathia caused airway obstruction and made it difficult to spread the larynx for intubation, effective ventilation could not be carried out and a tracheostomy was necessary. Since a differential diagnosis of Nager syndrome can be made based on the fact that micrognathia typically co-occurs with upper limb shortening, it is possible to diagnose the disease before birth and prepare for life-saving measures accordingly.
Document Type
Case Report
Keywords
Nager syndrome
acrofacial dysostosis
micrognathia
jaw index
SF3B4
Link to PubMed
Thumnail 73_3_273.pdf 3.99 MB