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.
© 2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.
MeSH terms
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Chylothorax / congenital*
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Chylothorax / diagnosis
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Chylothorax / genetics
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Chylothorax / pathology
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Cleft Palate / diagnosis*
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Cleft Palate / genetics
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Cleft Palate / pathology
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Comparative Genomic Hybridization
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Esophagus / abnormalities*
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Esophagus / pathology
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Female
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Fetus
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Genetic Diseases, X-Linked / diagnosis*
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Genetic Diseases, X-Linked / genetics
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Genetic Diseases, X-Linked / pathology
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Humans
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Hypertelorism / diagnosis*
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Hypertelorism / genetics
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Hypertelorism / pathology
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Hypospadias / diagnosis*
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Hypospadias / genetics
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Hypospadias / pathology
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Infant, Newborn
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Male
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Prenatal Diagnosis / methods
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Ubiquitin-Protein Ligases / genetics*
Substances
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MID1 protein, human
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Ubiquitin-Protein Ligases
Supplementary concepts
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Chylothorax, congenital
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Opitz GBBB Syndrome, X-Linked