Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia.
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.
Le Merrer
M
M
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U 393, Hôpital des Enfants Maldades, 149 rue de Sèvres, 75743 Paris cedex 15, France.
Maroteaux
P
P
D002356:Cartilage / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D010388:Pelvis / Q000002:abnormalities; D011859:Radiography; D009626:Terminology as Topic