Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis)

BMJ Case Rep. 2023 Mar 8;16(3):e254366. doi: 10.1136/bcr-2022-254366.

Abstract

We report a case of fetal microcephaly found during the second trimester ultrasound and confirmed by further ultrasound scans and fetal MRI. The array comparative genomic hybridisation analysis of the fetus and the male parent showed a 1.5 Mb deletion overlapping the Feingold syndrome region, an autosomal dominant syndrome that can cause microcephaly, facial/hand abnormalities, mild neurodevelopmental delay and others. This case illustrates the need for a detailed investigation by a multidisciplinary team to provide prenatal counselling regarding a postnatal outcome to the parents and orient their decision towards the continuation or termination of pregnancy.

Keywords: Genetic screening / counselling; Neuroimaging; Pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Intellectual Disability* / genetics
  • Limb Deformities, Congenital* / genetics
  • Male
  • Microcephaly* / diagnostic imaging
  • Microcephaly* / genetics
  • Pregnancy
  • Prenatal Diagnosis
  • Ultrasonography, Prenatal

Supplementary concepts

  • Oculodigitoesophagoduodenal syndrome