• Lixue Ouyang and Fan Yang.
• Department of Child Healthcare, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
• Medicine (Baltimore). 2017 Dec 1; 96 (52): e9504e9504.

RationaleCole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. Only 2 types of mutation sites in the P4HB and CRTAP genes have been reported.Patient ConcernsA 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features that were strikingly similar to those in the original 2 cases.DiagnosesWhole-exome sequencing revealed a novel deletion variation in exons 5 to 8 of the P4HB gene, which was found to be heterozygous using fluorogenic quantitative-polymerase chain reaction.LessonsThis de novo deletion mutation in exons 5 to 8 of the P4HB gene advances our understanding of CLCRP1, expands the mutation spectrum of P4HB, and diversifies the cases reported for this condition.Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

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