Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?

Goossens, Linde; Janssens, Sandra; Meersschaut, Valerie; Peeters, Hilde; Devlieger, Hugo; Devriendt, Koenraad

doi:10.1097/01.mcd.0000194409.30794.66

Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?

Author:

Goossens, Linde

Janssens, Sandra ; Meersschaut, Valerie ; Peeters, Hilde ; Devlieger, Hugo ; Devriendt, Koenraad

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, hair, heart defect, pituitary gland, syndrome, Choristoma, Face, Fatal Outcome, Female, Fingers, Hair, Heart Defects, Congenital, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Pituitary Gland, Polydactyly, Siblings, Syndrome, 1103 Clinical Sciences, 3202 Clinical sciences

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.