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Expanding the phenotypic spectrum of RPL13 ‐related skeletal dysplasia
Author(s) -
Reinsch Breann,
Grand Katheryn,
Lachman Ralph S.,
Kim Harry K. W.,
SanchezLara Pedro A.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61965
Subject(s) - short stature , dysplasia , dwarfism , exome sequencing , phenotype , medicine , osteochondrodysplasia , pediatrics , genetics , pathology , biology , gene
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.