Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentation was recognised due to his exceptionally short stature and persistent sexual ambiguity. His condition was only brought to medical attention as he developed a huge abdominal mass, which later turned out to be a benign ovarian mucinous cyst. It is therefore important to look out for co-existing congenital adrenal hyperplasia in patients with Turner's syndrome and virilisation, after the presence of Y chromosome material has been excluded.

Congenital pseudarthrosis of the clavicle is a rare clinical entity, first described in 1910. We report on a newborn baby girl who presented with a painless lump over mid-portion of right clavicle at her routine newborn examination, which was subsequently diagnosed as a congenital pseudarthrosis. Here we explore its pathogenesis, elaborate on its differential diagnoses in paediatric patients, and comment on its distinct radiological features.

Carotid cavernous fistula is a well-documented but rare condition in pregnancy, about which there are a limited number of reports in the literature. We report such a case in a 41-year-old woman presenting with right-sided headache, proptosis, and diplopia at 37 weeks of gestation. She was subsequently diagnosed to have carotid cavernous fistula based on angiography. Embolisation was performed in the postpartum period. Carotid cavernous fistula has the potential of serious morbidity including visual loss and intracranial haemorrhage. It can be treated effectively by endovascular embolisation, which confers a good prognosis. Although headache is a common complaint during pregnancy, obstetrician should be aware of this condition if the clinical presentation is suspicious.

With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised by a congenital non-progressive restrictive ophthalmoplegia and ptosis. It is an autosomal dominant disease, caused by mutations of the KIF21A gene. With positive family history and typical ophthalmological findings, mutational analysis of KIF21A gene should be performed, not only to confirming the diagnosis, but also to offer a prognosis, for genetic counselling, and the possibility of prenatal diagnosis. Here we report the first KIF21A mutation associated with CFEOM1A in Hong Kong.

We describe a 50-year-old man who first presented with multiple skin lesions which were characteristic of Degos' syndrome. The patient developed multiple episodes of abdominal pain. Some episodes resolved with conservative management, for others he underwent urgent operations for bowel perforations. The patient subsequently underwent extensive small bowel resection, but further systemic deterioration ensued and he died. The imaging findings of Degos' syndrome and the implications of pneumatosis intestinalis and pneumoperitoneum are discussed.