Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia

• Published in: American journal of medical genetics. Part A Vol. 185; no. 9; pp. 2776 - 2781
• Main Authors: Reinsch, Breann, Grand, Katheryn, Lachman, Ralph S., Kim, Harry K. W., Sanchez‐Lara, Pedro A.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.09.2021; Wiley Subscription Services, Inc
• Subjects: Adult; avascular necrosis of the femoral head; Bone dysplasia; Child; Dysplasia; Female; Humans; Legg–Calve–Perthes; Male; multiple epiphyseal dysplasia; Mutation; Neoplasm Proteins - genetics; Osteochondrodysplasias - genetics; Osteochondrodysplasias - pathology; Phenotype; Phenotypes; Radiography; Ribosomal Proteins - genetics; RPL13; RPL13‐related disorder; skeletal dysplasia; Skeleton; RPL13; avascular necrosis of the femoral head; multiple epiphyseal dysplasia; Legg-Calve-Perthes; skeletal dysplasia; RPL13-related disorder
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.61965

RPL13‐related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9‐year‐old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous RPL13 c.477+1G>A (IVS4+1G>A) pathogenic variant. This is the first identified case of an individual with an RPL13‐related skeletal dysplasia, normal height, and radiographs consistent with a form of MED and Legg–Calve–Perthes‐like disease. This case expands the phenotype of RPL13‐related disorders.