Literature DB >> 9799299

Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia.

M Le Merrer1, P Maroteaux.   

Abstract

We report on six unrelated children, three boys and three girls, with a metaphyseal dysplasia of early onset and spontaneous regressing evolution. During the first months of life the children present with enlargement of costochondral junctions and knobby wrists. On radiographs the metaphyseal changes of the knees are specific with fine irregularities. The femoral necks are blurred but not hypoplastic. The stature is not affected and there are no metabolic abnormalities. The radiographic findings regress during growth and the abnormalities disappear after the age of ten years. These metaphyseal changes and their mode of inheritance are different from previous cases described as anadysplasia. We propose therefore to delineate this syndrome as a new type of regressive metaphyseal dysplasia and to name it anadysplasia type II.

Entities:  

Mesh:

Year:  1998        PMID: 9799299     DOI: 10.1007/s002470050463

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  4 in total

1.  Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

Authors:  Ekkehart Lausch; Romy Keppler; Katja Hilbert; Valerie Cormier-Daire; Sarah Nikkel; Gen Nishimura; Sheila Unger; Jürgen Spranger; Andrea Superti-Furga; Bernhard Zabel
Journal:  Am J Hum Genet       Date:  2009-07-16       Impact factor: 11.025

2.  An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

Authors:  Nara Sobreira; Peggy Modaff; Gary Steel; Jing You; Sonia Nanda; Julie Hoover-Fong; David Valle; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2014-10-27       Impact factor: 2.802

3.  Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Authors:  Dong Li; David R Weber; Matthew A Deardorff; Hakon Hakonarson; Michael A Levine
Journal:  Eur J Hum Genet       Date:  2014-04-30       Impact factor: 4.246

4.  Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2.

Authors:  Lin Cheng; Fan Yang; Xinlin Chen; Jiawei Kang; Jiafu Li; Yuanzhen Zhang; Juan Liu; Jin Li; Jianhong Ma; Jie Duan
Journal:  Front Genet       Date:  2022-08-12       Impact factor: 4.772

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.