title: [3 children with velocardiofacial (Shprintzen) syndrome].
abstract: In three children, girls of 3, 8, and 12 years old, who attended or had attended public health care facilities, velocardiofacial syndrome was diagnosed. The most important symptoms are cleft palate, cardiac anomalies, characteristic facies (almond-shaped eyes, wide nose, small ears) and learning problems. The syndrome has an autosomal dominant inheritance pattern with a very variable expression. Using fluorescence in situ hybridisation, microdeletions of the long arm of chromosome 22 have been identified in 70% of the patients (22qII). Velocardiofacial syndrome should be considered in any child with cleft palate, velopharyngeal insufficiency and/or hypernasal speech, and notably in children with nasal regurgitation of food in the first year of life, poor growth, developmental problems, facial dysmorphism and/or conotruncal cardiac anomalies.
authors.affiliation: Stichting T&D (Kruiswerk, Thuiszorg, Algemeen Maatschappelijk Werk en Gezinszorg), Nieuwegein.
authors.forename: D A
authors.initials: DA
authors.lastname: Lie
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007859:Learning Disabilities / Q000235:genetics; D013577:Syndrome