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J Med Genet 28:596-604 doi:10.1136/jmg.28.9.596
  • Research Article

Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

  1. A H Lipson,
  2. D Yuille,
  3. M Angel,
  4. P G Thompson,
  5. J G Vandervoord,
  6. E J Beckenham
  1. Cleft Palate Clinic, Children's Hospital, Sydney, NSW, Australia.

      Abstract

      We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a relatively low incidence of clefting, good response to pharyngoplasty, considerable variability of the syndrome, and two further familial cases. We emphasise the low index of suspicion by paediatricians and paediatric subspecialists which resulted in delayed diagnosis and delayed treatment for the hypernasal speech and velopharyngeal insufficiency for periods of four months to seven years.