Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome

Masaya Kibe, Satoshi Ibara, Hidehito Inagaki, Takema Kato, Hiroki Kurahashi, Toshiro Ikeda

研究成果: Article査読

3 被引用数 (Scopus)

抄録

Bohring–Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation. Here, we report a BOS patient presenting with lethal persistent pulmonary hypertension of the newborn (PPHN) and inspiratory respiratory failure. The female infant was treated with nitric oxide and vasodilator, which did not improve her condition. The inspiratory respiratory failure required management with deep sedation. She died on postnatal day 60 due to progressed heart failure. Whole exome sequencing revealed de novo mutation in the ASXL1 gene, c.1934dupG, p.Gly646TrpfsTer12.

本文言語English
ページ(範囲)1245-1248
ページ数4
ジャーナルAmerican Journal of Medical Genetics, Part A
176
5
DOI
出版ステータスPublished - 05-2018

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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