Aijing Wang, Thomas Nixon, Howard Martin, Allan Richards, Annie McNinch, Philip Alexander, Rathin Pujari, Peter Bale, Nicholas Shenker, Philip Bearcroft, Senjah Brown, Adrian Blackwell, Arabella Poulson, Martin Snead
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)...
March 7, 2023: Archives of Disease in Childhood