A new family with epiphyseal chondrodysplasia type Miura.
CNP signaling
epiphyseal chondrodysplasia
overgrowth
pseudoepiphysis
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
11
07
2020
revised:
08
09
2020
accepted:
19
09
2020
pubmed:
20
10
2020
medline:
30
6
2021
entrez:
19
10
2020
Statut:
ppublish
Résumé
Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature and distinctive skeletal features caused by heterozygous NPR2 pathogenic variants. Only four families have been reported. We present a family with five affected individuals (mother, three sons, and daughter). The mother's phenotype was relatively mild: borderline tall stature and elongated halluces operated during childhood. The children were remarkably more severely affected with tall stature, scoliosis, and elongated toes and fingers leading to suspicion of Marfan syndrome. Progressive valgus deformities (at the hips, knees, and ankles) were the main complaints and necessitated orthopedic investigations and surgery. Radiographs showed coxa valga, scoliosis, multiple pseudoepiphyses of the fingers and toes with uneven elongation of the digits and ankle valgus. The two older brothers underwent osteotomies and guided growth for axial deformities and arthrodesis for elongated halluces. Genetic testing confirmed the clinical diagnosis of ECDM: all affected individuals had a heterozygous c.2647G>A (p.Val883Met) NPR2 variant in a highly conserved region in the carboxyl-terminal guanylyl cyclase domain. This two-generation family elucidates the clinical and radiological variability of the disease. These rare cases are important to gain further understanding of the fundamental processes of growth regulation.
Identifiants
pubmed: 33073519
doi: 10.1002/ajmg.a.61923
doi:
Substances chimiques
Receptors, Atrial Natriuretic Factor
EC 4.6.1.2
atrial natriuretic factor receptor B
EC 4.6.1.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
112-118Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
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