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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.

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Accession: 007548106

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