Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
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.
Department of Pediatrics, University Hospital Ghent, Ghent, Belgium.
Linde
L
Goossens
Sandra
S
Janssens
Valerie
V
Meersschaut
Hilde
H
Peeters
Hugo
H
Devlieger
Koen
K
Devriendt
D002828:Choristoma / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D010902:Pituitary Gland / Q000002:abnormalities*; D017689:Polydactyly / Q000150:complications*; D035781:Siblings; D013577:Syndrome