Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Clin Genet. 2020 Dec;98(6):620-621. doi: 10.1111/cge.13840. Epub 2020 Sep 14.

Abstract

We report two fetal cases carrying a de novo MID1 mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome.

Publication types

  • Letter

MeSH terms

  • Chylothorax / congenital*
  • Chylothorax / diagnosis
  • Chylothorax / genetics
  • Chylothorax / pathology
  • Cleft Palate / diagnosis*
  • Cleft Palate / genetics
  • Cleft Palate / pathology
  • Comparative Genomic Hybridization
  • Esophagus / abnormalities*
  • Esophagus / pathology
  • Female
  • Fetus
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology
  • Humans
  • Hypertelorism / diagnosis*
  • Hypertelorism / genetics
  • Hypertelorism / pathology
  • Hypospadias / diagnosis*
  • Hypospadias / genetics
  • Hypospadias / pathology
  • Infant, Newborn
  • Male
  • Prenatal Diagnosis / methods
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • MID1 protein, human
  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Chylothorax, congenital
  • Opitz GBBB Syndrome, X-Linked