A Case of Nager Syndrome Diagnosed Before Birth

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)273-277
Number of pages5
JournalActa medica Okayama
Volume73
Issue number3
DOIs
Publication statusPublished - Jun 1 2019

Fingerprint

Micrognathism
Upper Extremity
Parturition
Observation
Magnetic resonance imaging
Ventilation
Tracheostomy
Airway Obstruction
Larynx
Rare Diseases
Prenatal Diagnosis
Intubation
Fetus
Differential Diagnosis
Nager type Acrofacial dysostosis

Keywords

  • jaw index
  • acrofacial dysostosis
  • micrognathia
  • Nager syndrome
  • SF3B4

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

A Case of Nager Syndrome Diagnosed Before Birth. / Hayata, Kei; Masuyama, Hisashi; Eito, Eriko; Mitsui, Takashi; Tamada, Shoko; Eguchi, Takeshi; Maki, Jota; Tani, Kazumasa; Ohira, Akiko; Washio, Yousuke; Yoshimoto, Junko; Hasegawa, Kousei.

In: Acta medica Okayama, Vol. 73, No. 3, 01.06.2019, p. 273-277.

Research output: Contribution to journalArticle

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