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J Pediatr Genet 2020; 09(01): 053-057
DOI: 10.1055/s-0039-1694779
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

Ana Herrero-García
1   Department of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Purificación Marín-Reina
2   Dysmorphology and Reproductive Genetics Unit, Neonatal Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Gloria Cabezuelo-Huerta
1   Department of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain
,
M. Belén Ferrer-Lorente
1   Department of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Mónica Rosello
3   Department of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Carmen Orellana
3   Department of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Francisco Martínez
3   Department of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Antonio Pérez-Aytés
2   Dysmorphology and Reproductive Genetics Unit, Neonatal Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
› Author Affiliations