Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
نویسندگان
چکیده
منابع مشابه
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
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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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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Schwannomas are slow-growing mesenchymal neoplasms that arise from Schwann cells with low malignant potential. These uncommon neoplasms are nerve sheath tumors that arise at almost any anatomical site. The majority of schwannomas are benign, and few are malignant. The current study presents the rare case of an anal schwannoma that was successfully treated by surgery; there are few such cases pr...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.1.79