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

Clin Dysmorphol. 2006 Apr;15(2):71-4. doi: 10.1097/


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.

Publication types

  • Case Reports

MeSH terms

  • Choristoma / complications*
  • Face / abnormalities*
  • Fatal Outcome
  • Female
  • Fingers / abnormalities
  • Hair / abnormalities*
  • Hair / ultrastructure
  • Heart Defects, Congenital / complications*
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Pituitary Gland / abnormalities*
  • Polydactyly / complications*
  • Siblings*
  • Syndrome