Editor—Case 1, a male, was born at 38 weeks' gestation by normal delivery to unrelated parents. Mild bilateral renal pelvis dilatation was noted on prenatal scans as was a slight increase in liquor volume. An amniocentesis, which was performed for maternal age, showed a 46,XY karyotype. His birth weight was 2593 g (9th centile), length 47.5 cm (50th centile), and OFC 32.7 cm (50th centile). Features noted at birth included neck oedema, a large anterior fontanelle (6 cm × 7 cm), a short penis with a large scrotum, and an anteriorly placed anus. Echocardiography showed a patent ductus arteriosus with mild septal and right ventricular wall hypertrophy. His cranial ultrasound was reported to show partial agenesis of the corpus callosum. Postnatal renal ultrasound showed mild dilatation of the left pelvicalyceal system. At 7 months his growth parameters were weight 6.37 kg (0.4th centile), length 64.5 cm (2nd centile), and OFC 44 cm (25th centile).

Bilateral inguinal herniae were present from 3 months and repaired at 4 months of age. Ophthalmological examination showed a hypoplastic left disc and a small coloboma of the right disc. He also has hypermetropic astigmatism and bilateral entropion which required surgery. During his first year he developed eczema and persistent diarrhoea. He sat at 7 months, crawled at 1 year, and walked independently at 2 years. His linear growth progressed close to the 3rd centile and his OFC followed the 90th centile. The facial features of note are his wide mouth, long, smooth philtrum, and small posteriorly angulated ears (fig 1). His hair grows well but is brittle and coarse. He has one extra tooth in the mandible and all his teeth are irregular and pointed. He was due to attend mainstream school. He had required speech therapy for delayed language. Urinary mucopolysaccharides, oligosaccharides, …