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Title: Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
Authors: Goossens, Linde ×
Janssens, Sandra
Meersschaut, Valerie
Peeters, Hilde
Devlieger, Hugo
Devriendt, Koenraad #
Issue Date: Apr-2006
Publisher: Chapman & Hall
Series Title: Clinical Dysmorphology vol:15 issue:2 pages:71-74
Abstract: We present two siblings from unrelated parents presenting with intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation (ectopic neuropituitary gland associated with a hypoplastic adenopituitary in one of them, and a hypoplastic cerebellum and vermis in the other), abnormal hair with temporal balding, a striking facial dysmorphism and, at least in the child who survived, postnatal growth retardation and severe developmental delay. This probably represents a novel syndrome.
URI: 
ISSN: 0962-8827
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Newborn (-)
Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
Laboratory for Genetics of Human Development
× corresponding author
# (joint) last author

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