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

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.Velocardiofacial syndrome (VCFS) was first delineated in 12 children by Shprintzen et al,l though Strong2 had described a familial case previously. The features of the syndrome include overt and submucous clefting of the palate, cardiac anomalies, particularly of the conotruncal type, hypotonia, myopathic and dysmorphic facies, developmental delay and learning difficulties, small stature, velopharyngeal insufficiency, and a variety of other

Relationship between reaction time, fine motor control, and visual–spatial perception on vigilance and visual-motor tasks in 22q11.2 Deletion Syndrome

“…However, the majority of studies of neurocognitive function in 22q11DS have not adequately controlled for the effects of intellectual disability, commonly reported to be in the borderline to moderate range in 22q11DS with a mean FSIQ of 70 and a prevalence of approximately 80% (e.g. Campbell et al, 2009;Lipson et al 1991;Shprintzen et al, 1981;Swillen et al, 1997 Compared to other domains of cognitive functioning, there has been relatively little research to date on the development of motor skills in 22q11DS, particularly visual-motor integration, although more attention has been given to this area in recent times (e.g. Roizen et al, 2010;Van Aken et al 2009.…”

Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome

“…Gross motor, fine motor, and expressive language delays have been identified in the early years (4) and are followed by learning disabilities and academic failures, attention impairment, and behavioral anomalies in an estimated 90%-100% of the school-age children with this syndrome (5,6 …”

“…Gross motor, fine motor, and expressive language delays have been identified in the early years (4) and are followed by learning disabilities and academic failures, attention impairment, and behavioral anomalies in an estimated 90%-100% of the school-age children with this syndrome (5,6). Of greatest concern, retrospective adult studies have suggested that approximately 25% of the children with 22q11 deletion syndrome go on to develop schizophrenia in late adolescence or early adulthood (7,8).…”

Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)

“…[3][4][5] Growth retardation is reported in 36% of the patients included in the European collaborative study, 5 and in 39 -63% of the patients with a clinical diagnosis of DG/VCF syndrome in the series collected before the advent of the microdeletion studies. 1,6 -8 Growth hormone deficiency has been detected in 4 patients from the literature presenting with extreme short stature, two of whom had pituitary anomalies.…”