Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?

AUTOR(ES)

Worthington, S

RESUMO

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, submucous cleft of the palate, developmental delay, cardiac anomalies, and hypoparathyroidism.

Documentos Relacionados

• Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
• Is adermatoglyphia an additional feature of Kindler Syndrome?
• Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?
• “Copromessaging”: a new feature of Tourette’s syndrome?
• Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.