Female full-term (39 weeks’ gestation) neonate born of non-consanguineous healthy young white couple is admitted to neonatal intensive care unit with an acute respiratory distress syndrome. Prenatal ultrasound at 25 weeks of gestation revealed an increased nuchal translucency and a myocardial hypertrophy. The antenatal explorations found no aetiology (fetal DNA was analysed by comparative genomic hybridisation-array platform). At birth, she had multiple ecchymosis all over her …

中文翻译：

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重度先天性红细胞生成性卟啉症围产期发病

非近亲健康的年轻白人夫妇所生的女性足月（妊娠 39 周）新生儿因急性呼吸窘迫综合征被送入新生儿重症监护病房。妊娠 25 周时的产前超声显示颈项透明层增加和心肌肥大。产前检查未发现病因（通过比较基因组杂交阵列平台分析胎儿 DNA）。出生时，她全身多处瘀斑……