Abstract
In three unrelated children with slow growth and shortness of stature, lumbar hyperlordosis, flexion contractures at the hips, short hands and feet and with restricted interphalangeal joint mobility, the diagnosis of acrofacial dysplasia was proposed. Skeletal changes were minimal, except for those in the hands. The two older patients had heart valve abnormalities, one of them mild hepatomegaly. These children cannot be distinguished from patients with geleophysic dysplasia, a probably genetically heterogeneous disorder of connective tissue with as yet unknown enzyme defect. In the fibroblast strains from two of the patients, a reduced activity of acid sialidase was observed (see table) but no increase of either total or free sialic acid. No other storage compounds were detected. The other lysosomal acid hydrolases tested in the fibroblasts were normal.
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