Margarita Álvarez-de-la-Rosa Rodríguez, Mercedes Hernández-Suárez, A. Padilla-Pérez, Ylenia Dévora-Cabrera, Walter Plasencia Acevedo
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引用次数: 0
Abstract
Abstract Objectives Intracranial hemorrhages are common events in premature infants but in fetal life those incidents are often of ominous prognosis and unknown etiology. Case presentation We present the diagnosis, evolution and management of a fetal hemorrhagic accident associated with an inherited maternal microdeletion of the chromosome 16 short arm. Abnormal neurosonography in routine second trimester ultrasound led to follow up. Fetal germinal matrix hemorrhage along with severe asymmetric ventriculomegaly and a secondary periventricular cyst developed in the early third trimester. Array CGH showed microdeletion 16p11.2. Conclusions This microdeletion had not been previously associated with fetal intracranial hemorrhage.
期刊介绍：
Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.
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