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- W2895872531 abstract "Coffin Siris syndrome (CSS) is a congenital disease characterised by a coarse facies and hypoplasia or aplasia of distal phalanx or nail (typically affecting the 5th finger) which affects neurological development and the immune system. Various mutations (mainly de novo) have been implicated, affecting BAF or PBAF complexes and their subunits implicated in chromatin remodelling, leading to clinical complications such as neurological development impairment, cancers or high risk of recurrent infections that appear during childhood. We report a case of prenatal diagnosis of CSS. The mother (Gravida 3, Para 2) had no prior medical history. The first ultrasound showed no abnormality. At 18 weeks' gestation, the ultrasound showed hydrocephalus and macrocephaly, corpus callosum agenesis, a left diaphragmatic hernia, severe IUGR (2nd percentile) and a ventricular septal defect. She requested a medical termination which was accepted according to French law. The autopsy showed an aplasia of the distal phalanx (5th finger), a coarse facies and malformations were confirmed. Sequencing analysis found a de novo ARID1A mutation which is responsible for CSS. Our case highlights signs that could lead to evoking the diagnosis. IUGR is the most frequent sign described prenatally. Ventriculomegaly however had never been described in CSS. Cardiac malformations or cleft palate have been reported in infants with CSS. Their prenatal description remains extremely rare. In one recent case report, ultrasound showed left diaphragm hernia with IUGR, aortic arch hypoplasia, small left sided cardiac structures and a ventricular septal defect. The karyotype was normal, and the diagnosis of CSS was based on clinical findings and whole genome sequencing after birth (ARID1B mutation). To our knowledge, our case and this one are the most severe cases described so far. However, the possibility of prenatal diagnosis appears limited in the absence of an index case. The typical features cannot be seen by sonography, and the malformations reported are variable and non-specific. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
- W2895872531 created "2018-10-26" @default.
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- W2895872531 date "2018-10-01" @default.
- W2895872531 modified "2023-09-25" @default.
- W2895872531 title "OP23.09: Prenatal diagnosis of Coffin Siris syndrome" @default.
- W2895872531 doi "https://doi.org/10.1002/uog.19612" @default.
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