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

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1245-1248
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number5
DOIs
Publication statusPublished - 05-2018

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome'. Together they form a unique fingerprint.

  • Cite this