Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Legg-Calve-Perthes' disease (LCP) is defined as avascular necrosis of the femoral head in a child and may present to a variety of disciplines from general practice to orthopaedics, paediatrics, rheumatology and more. The Stickler syndromes are a group of disorders of type II, IX and XI collagen associated with hip dysplasia, retinal detachment, deafness and cleft palate. The pathogenesis of LCP disease remains an enigma but there have been a small number of cases reporting variants in the gene encoding the α1 chain of type II collagen (COL2A1).

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Stickler syndrome (SS) is characterized by ophthalmic, articular, orofacial, and auditory manifestations. SS is usually autosomal dominantly inherited with variants in COL2A1 or COL11A1. Recessive forms are rare but have been described with homozygous variants in COL9A1, COL9A2, and COL9A3 and compound heterozygous COL11A1 variants.

Stickler syndrome in children: a radiological review.

Aim: To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing.

Patients And Methods: It is understood that the National Health Service (NHS) commissioned service at Addenbrookes Hospital, Cambridge, UK has the largest cohort of Stickler syndrome patients in the paediatric age group worldwide with 240 registered children. Fifty-nine were assessed radiologically and for their genotypes.

L1 vertebral density on CT is too variable with different scanning protocols to be a useful screening tool for osteoporosis in everyday practice.

Objective: To determine whether a single L1 density threshold can be used to screen all patients undergoing CT at a busy tertiary referral centre for those at risk of osteoporosis.

Methods: 200 patients, who had been randomly selected for an audit of CT reporting of incidental vertebral fractures, had their L1 density measured on 864 routine CT examinations. These had been performed with a variety of kVp and intravenous (i.

The reliability of measuring the density of the L1 vertebral body on CT imaging as a predictor of bone mineral density.

Aim: To determine whether the density of the L1 vertebra measured on computed tomography (CT) images correlates with the bone mineral density (BMD) as measured by quantitative computed tomography (QCT), and to determine the reliability of L1 density measurements by different observers to see if this measure could help identify patients who would benefit from formal BMD assessment.

Materials And Methods: Non-contrast CT along with a phantom for determination of BMD was performed on 30 healthy patients. The L1 density was measured by 3 observers at two time-points separated by at least 2 weeks.