Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
نویسندگان
چکیده
منابع مشابه
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
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 paediatrici...
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We report three cases of velocardiofacial syndrome (VCFS) with anal anomalies who have deletions of the 22q11 region and a further case where the proband has VCFS clinically and her father has an anal anomaly. It is important to consider VCFS in the differential diagnosis of children with anal anomalies and to look for other features of the syndrome, such as asymmetrical crying facies, submucou...
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Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, velocardiofacial syndrome may be the most common genetic disorder seen by pediatric otolaryngologists. Individuals affected with velocardiofacial syndrome lo...
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Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a m...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.9.596