Leiomyoma of the nose and paranasal sinuses is rare. It constitutes about 1 per cent of all benign tumours. This is due to the paucity of smooth muscle in the nose. In this paper, the authors present one case of vascular leiomyoma which arose in the inferior turbinate in a 64-year-old lady. It was treated by partial turbinectomy with the relief of her symptoms of nasal obstruction, epistaxis and facial pain. The English literature on the topic is reviewed.

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A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence in situ hybridisation (FISH). Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome.

A rare case of paraganglioma of the external auditory canal is presented. It was treated by excision and no recurrence has been noted after 18 months of follow up.

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings.