Hallermann Streiff syndrome: 'Bird faced' but not 'bird brained'

摘要

Hallermann Streiff syndrome or Francois dyscephaly syndrome is a rare condition with approximately 200 reported cases in the world. It is of unknown aetiology but it has been suggested that developmental disturbance of both ectoderm and mesoderm may be involved. Most cases are sporadic, with some mutations in gap junction alpha-1 protein (GJA1) gene reported. Here we report a case which presented to us with stunted growth.