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

AUTOR(ES)

Lipson, A H

RESUMO

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.

Documentos Relacionados

• Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
• Velocardiofacial syndrome: learning difficulties and intervention.
• Fragile X syndrome: an important preventable cause of mental handicap.
• Brown's syndrome: an important cause of diplopia in systemic lupus erythematosus.
• Ethnicity and the sudden infant death syndrome: important clues from anthropology.