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

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.

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.

“…29 Briefly, the proband presented at the age of 2 years with proportionate short stature (79 cm, <3rd centile) lumbar lordosis, limited joint mobility of hips, varus deformity of the lower limbs and a discrete waddling gait. Radiographs showed that the proximal femoral metaphyses were irregular and enlarged.…”

Cartilage hair hypoplasia in infancy: A misleading chondrodysplasia

“…Mfikitie et al [11] in Finland found in a follow up of 50 individuals with cartilage hair hypoplasia a mean birth length of 45.9 cm + 2.3 for boys, and 44.9 cm + 2.6 for girls. On the other hand, only five neonatal X-ray films have been published [3,4,8,9,13]. In all cases the limbs were thick, the femora with a slight inward curvature.…”

“…Recently we have stressed the importance of metaphyseal lesions detectable in the first weeks of life that have a regressive course; the term metaphyseal anadysplasia [13] was proposed for this entity. In this report we show that the early radiological signs can be very misleading in the McKusick type of metaphyseal chondrodysplasia, the so-called "cartilage hair hypoplasia".…”

A multiplex family with possible metaphyseal Spahr‐type dysplasia and exclusion of RMRP and COL10A1 as candidate genes

“…The anadysplasia type I and II [Maroteaux et al, 1991;Le Merrer and Maroteaux, 1998], and the entity reported by Wiedemann and Spranger [1970] were ruled out as possible diagnoses by the fact that there is only a mild decrease in final length or a normal stature in those syndromes, and a different mode of inheritance.…”