Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome.
Am J Med Genet A
; 176(5): 1245-1248, 2018 05.
Article
em En
| MEDLINE
| ID: mdl-29681105
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article