1. ASXL1-related Bohring-Optiz Syndrome complicated by Persistent Neonatal Pulmonary Hypertension and Abnormal Alveoli Formation.
- Author
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Arioka M, Nakamura S, Nishioka K, Inoue K, Nakao Y, Miyai Y, Morita H, Koyano K, Takenouchi T, Yasuda S, Chiba Y, Iwase T, Ueno M, and Kusaka T
- 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., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interests., (Copyright © 2024. Published by Elsevier Masson SAS.)
- Published
- 2024
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