Spondylometepiphyseal dysplasia, Strudwick type.
The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro-osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the heterogeneous group of skeletal dysplasia involving spine and tubular bones, the spondyloepiphyseal, and spondylometaphyseal dysplasias. Disproportionately short limbs and delayed epiphyseal maturation are present at birth, and the entity is radiographically indistinguishable from spondyloepiphyseal dysplasia (SED) congenita during infancy. The metaphyseal change that allows identification of the entity described here develops during early childhood, and radiographically is seen as "dappling," ie, the mottled appearance of alternating zones of osteosclerosis and osteopenia. Severe scoliosis and cord compression may be important clinical problems related to the spine changes in adulthood. We have identified one family with two affected sibs and normal parents, suggesting autosomal recessive inheritance and distinguishing the entity from SED congenita that has autosomal dominant inheritance.
D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007085:Ilium / Q000473:pathology; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009085:Mucopolysaccharidosis IV / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome