Epidural hematomas are rare birth injuries, and spontaneous presentation is exceptional. We present 2 cases of newborns with spontaneous epidural hematomas after delivery. In both cases, cerebral hemorrhage was associated with skull fracture and cephalohematoma. One newborn presented with neurologic symptoms in the form of convulsions, whereas the other was asymptomatic. Confirmation of the diagnosis was made by cranial computed tomography. Both cases were treated surgically by craniotomy. Follow-up showed normal neurologic development.
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), deletions of the gene, or its long-range enhancers on the maternal allele are responsible for this neonatal lethal disorder. Here, we describe monozygotic twins and one full-term newborn with ACD and gastrointestinal malformations caused by de novo mutations of FOXF1 on the maternal-inherited alleles. Since this parental transmission is consistent with genomic imprinting, the parent-of-origin specific monoallelic expression of genes, we have undertaken a detailed analysis of both allelic expression and DNA methylation. FOXF1 and its neighboring gene FENDRR were both biallelically expressed in a wide range of fetal tissues, including lung and intestine. Furthermore, detailed methylation screening within the 16q24.1 regions failed to identify regions of allelic methylation, suggesting that disrupted imprinting is not responsible for ACDMPV.
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