eISSN: 2449-6731
ISSN: 2449-6723
Prenatal Cardiology
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Case report

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

Monika Wójtowicz-Marzec
Maria Respondek-Liberska
2, 3

  1. Student of the Medical Univerisity of Lodz
  2. Department of Prenatal Cardiology, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland
  3. 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.

fetal echocardiography, Nijmengen syndrome, microcephaly, hydrocephalus

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