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. 1991 Sep;28(9):596–604. doi: 10.1136/jmg.28.9.596

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

A H Lipson 1, D Yuille 1, M Angel 1, P G Thompson 1, J G Vandervoord 1, E J Beckenham 1
PMCID: PMC1015789  PMID: 1956057

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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