Introduction: Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. Children typically present with leg bowing, enlargement of wrists, rachitic rosary (swelling of costochondral junctions) and/or waddling gait. But not every child with growth delay and enlarged metaphyses is diagnosed with rickets. Metaphyseal anadysplasia (MAD) is a disorder of variable severity with metaphyseal flaring and irregularities, without vertebral abnormalities. MAD is characterized by an early onset and a regressive course in late childhood without treatment, despite persistent short stature. Autosomal dominant or recessive variants in the matrix metalloproteinase 13 gene (MMP13) are responsible for these transient metaphyseal changes.
Case Presentation: We report a new pathogenic heterozygous variant in MMP13 (NM_002427.4: c.216G>C, p.Gln72His) in a toddler, initially thought to have rickets, and his father, with MAD phenotypes. Additionally, we review the seven reported MMP13 variants.
Conclusion: One should keep a wide differential diagnosis in cases of suspected rickets, including skeletal dysplasias which might have a regressive course.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140414 | PMC |
| http://dx.doi.org/10.1186/s12887-021-02716-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.
Pediatr Int
July 2024
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Identification of Novel Compound Heterozygous Variants of in Fetus With Metaphyseal Anadysplasia Type 2.
Front Genet
August 2022
Department of Obstetrics and Gynecology, Zhongnan Hospital of Wuhan University, Wuhan, China.
Matrix metalloproteinase 9 (MMP9) is an important member of the matrix metalloproteinase family and plays a key role in balancing extracellular matrix proteins. Studies have shown that the homozygous mutations in can lead to metaphyseal anadysplasia type 2 (MANDP2, OMIM#613073). The clinical phenotype of this disease is limited and there were only five reported cases of MANDP2 associated with homozygous mutations from three families.
View Article and Find Full Text PDFEarly clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
Eur J Med Genet
October 2021
Department of Pediatrics, Clinical Genetics Unit, University Children's Hospital, Badajoz, Spain; Chair of Pediatrics, Department of Biomedical Sciences, University of Extremadura, Badajoz, Spain. Electronic address:
Metaphyseal anadysplasia is a very rare hereditary skeletal dysplasia with onset occurring normally during the second and third years of life, but unlike many other dysplasias, symptoms appear to resolve by adolescence. Two types exist, the more severe form, type 1, with both autosomal dominant and recessive inheritance due to pathogenic variants in MMP13, whilst type 2, an even rarer form is due to biallelic MMP9 variants. To date, only two metaphyseal anadysplasia type 2 families have been reported.
View Article and Find Full Text PDFRickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.
BMC Pediatr
May 2021
Bone and mineral Clinic, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada.
Introduction: Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. Children typically present with leg bowing, enlargement of wrists, rachitic rosary (swelling of costochondral junctions) and/or waddling gait. But not every child with growth delay and enlarged metaphyses is diagnosed with rickets.
View Article and Find Full Text PDFA de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.
Eur J Med Genet
November 2019
Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China. Electronic address:
Metaphyseal anadysplasia 1 (MIM# 602111) belongs to a heterogeneous group of skeletal diseases characterized by an autosomal dominant form of growth defects due to metaphyseal changes with epiphyseal involvement similar to other metaphyseal disorders. Matrix metalloproteinase 13 encoded by MMP13 presumably plays important roles in bone formation and growth, and pathogenic variants in MMP13 have been identified to cause metaphyseal anadysplasia 1. Only six pathogenic variants in MMP13 have been previously reported worldwide.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!