Original ArticlesCenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemiaSteel, Edwarda; Hurst, Jane Ab; Cullup, Thomasc; Calder, Alistaird; Sivakumar, Branavane; Shah, Pratikf; Wilson, Louise CbAuthor Information aCentral Lancashire Teaching Hospitals, Preston Departments of bClinical Genetics cMolecular Genetics, North East Thames Regional Genetics Service dRadiology ePlastic Surgery fEndocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Received 12 April 2019 Accepted 19 November 2019 Correspondence to Edward Steel, MBChB, BSc, Clinical Genetics, Level 4 Barclay House, Great Ormond Street Hospital, London WC1N 3JH, UK, Tel: +44 0 20 7762 6831; fax: +44 0 20 7813 8141; e-mail: firstname.lastname@example.org Clinical Dysmorphology: April 2020 - Volume 29 - Issue 2 - p 73-80 doi: 10.1097/MCD.0000000000000311 Buy Metrics Abstract Cenani-Lenz syndactyly (CLS) is a rare autosomal recessive syndrome characterized by disorganized oligosyndactyly of upper and lower limbs as well as radioulnar synostosis. Structural renal abnormalities are also common. We report two affected brothers, born to orthodox Jewish parents, in whom we found a novel homozygous missense variant c.4910G>A; p.(Cys1637Tyr) in LRP4 situated in an EGF-like domain between the fourth beta-propeller and transmembrane domains. Both brothers have had recurrent ketotic hypoglycaemia which has not been associated previously. We present 3D computed tomographic imaging illustrating the limb abnormalities in detail. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.