Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1649
Abstract: Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed with 17q21.31… read more here.
Keywords: ultrasound findings; koolen vries; prenatal ultrasound; vries foetuses ... See more keywords
Early fetal presentation of Koolen-de Vries: Case report with literature review.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.012
Abstract: Koolen-de Vries syndrome (MIM#610443) is a rare microdeletion syndrome involving the 17q21.31 region, which was first described by Koolen in 2006. Clinical and behavioral characteristics have been extensively reported from more than 100 postnatal cases… read more here.
Keywords: koolen vries; corpus callosum; case; fetal presentation ... See more keywords