1. OP23.09: Prenatal diagnosis of Coffin Siris syndrome.
- Author
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Bartin, R., Corizzi, F., Melle, L., Mechler, C., Gavard, L., Boutaud de la Combe, l., Mandelbrot, l., and Picone, O.
- Subjects
PRENATAL diagnosis ,COFFINS ,SYNDROMES ,CONGENITAL disorders ,BIRTH order - 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. 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). [Extracted from the article]
- Published
- 2018
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