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ASXL1-related Bohring-Optiz Syndrome complicated by Persistent Neonatal Pulmonary Hypertension and Abnormal Alveoli Formation.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2024 Oct 16, pp. 104978. Date of Electronic Publication: 2024 Oct 16. - Publication Year :
- 2024
- Publisher :
- Ahead of Print
-
Abstract
- Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS. The patients had severe PPHN requiring inhalation of nitric oxide. Genetic testing revealed a de novo frameshift variant in ASXL1. Autopsy revealed that the lung was at the saccular stage, equivalent to 28-34 weeks of gestation. This is the first report to present pathological evidence of immaturity of the lung that may be associated with PPHN in a patient with BOS caused by a variant in ASXL1.<br />Competing Interests: Declaration of Competing Interest The authors declare no conflict of interests.<br /> (Copyright © 2024. Published by Elsevier Masson SAS.)
Details
- Language :
- English
- ISSN :
- 1878-0849
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 39423952
- Full Text :
- https://doi.org/10.1016/j.ejmg.2024.104978