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. 1993 Oct;30(10):825–827. doi: 10.1136/jmg.30.10.825

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.

S E Holder 1, R M Winter 1, S Kamath 1, P J Scambler 1
PMCID: PMC1016563  PMID: 8230158

Abstract

We report a mother and daughter with features of the velocardiofacial (VCF) syndrome and monosomy for 22q11 identified using molecular techniques. The mother had surgery as a child for a cleft palate and a congenital heart defect, and her facial features were consistent with the diagnosis. The daughter had developmental delay, absent speech, scoliosis, and similar facial features, but no cleft palate or congenital heart defect. These cases illustrate the considerable intrafamilial variability of the phenotype of VCF syndrome. The clinical and molecular diagnosis of this syndrome is discussed. The phenotypic variability of the VCF syndrome means that many cases may be undiagnosed.

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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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