Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia
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...
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Published in | American journal of medical genetics. Part A Vol. 185; no. 9; pp. 2776 - 2781 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Hoboken, USA
John Wiley & Sons, Inc
01.09.2021
Wiley Subscription Services, Inc |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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ISSN: | 1552-4825 1552-4833 |
DOI: | 10.1002/ajmg.a.61965 |