EurekaMag
+ Translate
+ Most Popular
The pigeon tick (Argas reflexus): its biology, ecology, and epidemiological aspects
Prevalence of hemoglobin abnormalities in Kebili (Tunisian South)
Lipogranuloma: a preventable complication of dacryocystorhinostomy
Value of basal plasma cortisol assays in the assessment of pituitary-adrenal insufficiency
Bees from the Belgian Congo. The acraensis group of Anthophora
Placing gingival retraction cord
Total serum IgE, allergy skin testing, and the radioallergosorbent test for the diagnosis of allergy in asthmatic children
Acariens plumicoles Analgesoidea parasites des oiseaux du Maroc
Injuries of terminal phalanges of the fingers in children
Biology of flowering and nectar production in pear (Pyrus communis)
Das Reliktvorkommen der Aspisviper (Vipera aspis L.) im Schwarzwald
Hydrological modelling of drained blanket peatland
Pathologic morphology and clinical significance of the anomalous origin of the left circumflex coronary artery from the right coronary artery. General review and autopsy analysis of 30 cases
Cyto genetic analyses of lymphocyte cultures after exposure to calcium cyclamate
Axelrodia riesei, a new characoid fish from Upper Rio Meta in Colombia With remarks concerning the genus Axelrodia and description of a similar, sympatric, Hyphessobrycon-species
Favorable evolution of a case of tuberculosis of pancreas under antibiotic action
RIFM fragrance ingredient safety assessment, Valencene, CAS Registry Number 4630-07-3
Parenteral microemulsions: an overview
Temperate pasture: management for grazing and conservation
Evaluation of a new coprocessed compound based on lactose and maize starch for tablet formulation
Thermal expansion and cracking of three confined water-saturated igneous rocks to 800C
Revision of the genera of the tribe Stigmoderini (Coleoptera: Buprestidae) a discussion of phylogenetic relationships
Anal tuberculosis. Report of a case
Gastric tuberculosis in the past and present
Adaptive responses of the cardiovascular system to prolonged spaceflight conditions: assessment with Holter monitoring

Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia


Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia



Pediatric Radiology 28(10): 771-775



ISSN/ISBN: 0301-0449

PMID: 9799299

DOI: 10.1007/s002470050463

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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 046671935

Download citation: RISBibTeXText

Related references

Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. American Journal of Medical Genetics 39(1): 4-10, 1991

Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling. A.M.A. Archives of Internal Medicine 94(6): 871-885, 1954

Pyles disease familial metaphyseal dysplasia a presentation of 2 cases and argument for its separation from cranio metaphyseal dysplasia. Journal of Bone and Joint Surgery American Volume 52(2): 347-354, 1970

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2. European Journal of Medical Genetics 2021: 104307, 2021

Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. Australasian Radiology 49(1): 57-62, 2005

Metaphyseal anadysplasia in two sisters. Pediatric Radiology 29(5): 372-375, 1999

Metaphyseal anadysplasia: Evidence of genetic heterogeneity. American Journal of Medical Genetics 82(1): 43-48, 1999

Metaphyseal chondro dysplasia and spondylo metaphyseal dysplasia. Teratology 26(1): 32A, 1982

Metaphyseal anadysplasia: observation of a patient from infancy to the fifth decade of life. Prader-Willi Syndrome Association. Annual Scientific Conference 6(3): 123-127, 1992

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia. European Journal of Medical Genetics 62(11): 103575, 2019

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing. Clinical Genetics 92(6): 645-648, 2017

Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?. Zeitschrift für Kinderheilkunde 108(2): 171-186, 1970

Mutations in Mmp9 and Mmp13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia. The American Journal of Human Genetics 85(3): 420, 2009

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. American Journal of Human Genetics 85(2): 168-178, 2009

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. European Journal of Human Genetics: Ejhg 23(2): 264-266, 2015