Prenatal microcephaly and hydrocephalus and normal heart anatomy, postnatal diagnosis of Nijmegen syndrome

Monika Wójtowicz-Marzec; Maria Respondek-Liberska

eISSN: 2449-6731
ISSN: 2449-6723

Prenatal Cardiology

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abstract:

Case report

Prenatal microcephaly and hydrocephalus and normal heart anatomy, postnatal diagnosis of Nijmegen syndrome

Monika Wójtowicz-Marzec

¹

,

Maria Respondek-Liberska

^{2, 3}

Student of the Medical Univerisity of Lodz

Department of Prenatal Cardiology, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland

Medical University of Lodz, Department of Diagnoses and Prevention Fetal Malformations

Prenat Cardio 2018 Jan; 8(1):53-58

Online publish date: 2019/07/16

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Nijmengen breakage syndrome is a rare autosomal condition mainly characterized by microcephaly. Patients are predisposed to malignancies due to combined immunodeficiency. The presented patient had prenatally diagnosed microcephaly with atypical ventriculomegaly of occipital horns. Fetal echocardiography showed a normal fetal heart anatomy. Diagnosis of Nijmengen syndrome was confirmed postnatally. The differential diagnosis of fetal microcephaly should take into account intrauterine infections, perinatal brain injury, congenital malformations or biological variants.

keywords:

Prenatal microcephaly and hydrocephalus and normal heart anatomy, postnatal diagnosis of Nijmegen syndrome

Monika Wójtowicz-Marzec 1 , Maria Respondek-Liberska 2, 3

fetal echocardiography, Nijmengen syndrome, microcephaly, hydrocephalus

Monika Wójtowicz-Marzec

¹

,

Maria Respondek-Liberska

^{2, 3}