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

Clinical Dysmorphology
Linde GoossensKoen Devriendt

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.

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