Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.

ABSTRACT:

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 re

SUBMITTER: Diaz Escagedo P 

PROVIDER: S-EPMC8140414 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature