Abstract
Cardiospondylocarpofacial syndrome (CSCF; MIM#157800) is a rare condition caused by monoallelic variants in the MAP3K7 gene. The characteristic features of CSCF include growth retardation, facial dysmorphism, carpal-tarsal fusion, dorsal spine synostosis, deafness, inner ear malformation, cardiac septal defect and valve dysplasia. We present here a 20-week-old fetus with cardiospondylocarpofacial syndrome arising from a de novo variant c.616T>G p.(Tyr206Asp) in the MAP3K7 (NM_145331.3) gene with early and severe tricuspid valve dysplasia as a prenatal manifestation. Fetal echocardiography revealed tricuspid regurgitation with valve prolapse. Fetus had facial dysmorphism and dilated right atrium and right ventricle with tricuspid valve dysplasia on perinatal evaluation. To the best of our knowledge, this is the first report mentioning the prenatal manifestation of cardiospondylocarpofacial syndrome.
Original language | English |
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Pages (from-to) | 721-723 |
Number of pages | 3 |
Journal | Prenatal Diagnosis |
Volume | 43 |
Issue number | 6 |
DOIs | |
Publication status | Published - Jun 2023 |
Keywords
- Pregnancy
- Female
- Humans
- Tricuspid Valve
- Heart Defects, Congenital/diagnostic imaging
- Mitral Valve Insufficiency/complications
- Fetus
- Tricuspid Valve Insufficiency/etiology
ASJC Scopus subject areas
- Obstetrics and Gynaecology
- Genetics(clinical)