+ 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: a metaphyseal dysplasia of early onset with radiological regression and benign course

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

American Journal of Medical Genetics 39(1): 4-10

ISSN/ISBN: 0148-7299

PMID: 1867263

DOI: 10.1002/ajmg.1320390103

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.

Please choose payment method:

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

Accession: 007548106

Download citation: RISBibTeXText

Related references

Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. Pediatric Radiology 28(10): 771-775, 1998

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

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

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

The radiological appearances of familial metaphyseal dysplasia. Clinical Radiology 33(4): 439-444, 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

The radiological manifestations of metaphyseal dysplasia (Pyle disease). British Journal of Radiology 52(618): 431-440, 1979

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

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

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