Acromesomelic Dysplasia, Maroteaux Type

Abstract

The term acromesomelic refers to disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton. Patients with this condition show small to normal birth length, but skeletal growth falls off sharply after birth, resulting in severe short stature from early childhood on. In the limbs there are short tubular bones, bowed forearms, very short and broad fingers, short toes, and large halluces. Also seen are redundant skin on the fingers, short nails, and ligamentous laxity, especially of the finger joints. Disproportionately short limbs are often noted at birth but become more apparent during the first year of life. There is midface hypoplasia with a depressed nasal bridge and a small nose. There are no distinctive radiological signs at birth, but later changes include shortening and bowing of the radius; radial head subluxation or dislocation; very short and broad metacarpals, metatarsals, and phalanges; and cone-shaped epiphyses. The axial skeletal is also involved, characterized by increased lumbar lordosis, lower thoracic kyphosis, and gibbus deformity. Also seen are oval vertebral bodies in early infancy, then relative posterior hypoplasia and anterior central protrusion. Intellectual development is normal.