Literature DB >> 1867263

Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.

P Maroteaux1, A Verloes, V Stanescu, R Stanescu.   

Abstract

We report on 4 boys (including 2 maternally related first cousins) with a metaphyseal dysplasia of early onset and regressive evolution. Diagnosis is possible in the first months. Distal metaphyses of long bones are very irregular. Femoral necks seem hypoplastic and the edges of the metaphyses are almost vertical; femoral shaft is bowed. Those anomalies disappear after 2 years. The main manifestations are slight shortness and a light varus deformity of the lower limbs. Stature is not affected. The upper tibial growth cartilage, studied in one case, showed wide proliferative and hypertrophic zones with an unusual appearance of the last hypertrophic cells and an abnormal zone of cartilage calcification and resorption. The name "metaphyseal anadysplasia" is suggested for this early and regressive disorder. We are aware of other forms of regressive metaphyseal dysplasia which deserve further delineation. Therefore infants whose radiological changes of metaphyseal dysplasia do not fall into one of the well-defined types should be followed and prediction of the adult height should not be made on the basis of the findings on the initial examination.

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Year:  1991        PMID: 1867263     DOI: 10.1002/ajmg.1320390103

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  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

Review 3.  The weight of the fourth dimension for the diagnosis of genetic bone disease.

Authors:  A Giedion
Journal:  Pediatr Radiol       Date:  1994

4.  Japanese type of spondylo-metaphyseal dysplasia.

Authors:  T Hasegawa; K Kozlowski; G Nishimura; H Hara; Y Hasegawa; T Aso; S Koto; T Nagai; Y Tsuchiya
Journal:  Pediatr Radiol       Date:  1994

5.  Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Authors:  G A Wallis; B Rash; B Sykes; J Bonaventure; P Maroteaux; B Zabel; R Wynne-Davies; M E Grant; R P Boot-Handford
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

6.  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

7.  Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia.

Authors:  M Le Merrer; P Maroteaux
Journal:  Eur J Pediatr       Date:  1991-10       Impact factor: 3.183

  7 in total

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