Humero-spinal dysostosis

Abstract

A 2 year old boy with humero-spinal dysostosis is described. This is the third case of this disease reported in the literature. Humero-spinal dysostosis is characterised radiologically by distal humeral bifurcation, elbow subluxation and coronal cleft vertebrae. Congenital, progressive heart disease, possibly with fatal outcome, is probably part of the syndrome.

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

“…The single feature most useful to recognize CHST3 deficiency seems to be the dysostotic changes in the thoracolumbar spine-namely, widening of the interpedicular distance at L1 seen in the antero-posterior projection and the short and cleft vertebral bodies in the lateral projection-that were present in our patients. These skeletal changes were mentioned by both Kozlowski et al 9 and Cortina et al 10 in their descriptions of HSD, and they are also recognizable in Figure 1 of the report on SED-OT by Rajab et al 3 The affected individuals in the SED-OT kindred reported by Rajab et al were studied as older children and adults; congenital dislocations were not mentioned, the vertebral clefting was no longer present, kyphoscoliosis and bone dysplastic changes were perceived as more prominent, and the condition was described as a form of spondyloepiphyseal dysplasia. 3 It is possible that had these patients been identified as newborns, they might have had features compatible with HSD or recessive Larsen syndrome.…”

“…The third row shows the diagnostically useful spinal changes: In the AP projection, there is marked widening of the interpedicular space from T12 to L1 (the arrows mark the vertebral body of L1); the interpedicular space then decreases progressively from L3 to L5. In the lateral projection, notching or scalloping of the upper and lower endplates of the lumbar vertebral bodies can be seen; these changes have been emphasized in the original descriptions of humero-spinal dysostosis 9,10 . The changes are more pronounced in the younger patients.…”

“…All patients had a height significantly below the third percentile at last examination. Our lone adult patient (patient 4), whose clinical and radiographic features at age 2 yr have been published as an example of HSD, 10 achieved a final height of 134 cm. Congenital joint dislocations were present in all children and were the presenting feature for five out of six patients ( Figure 1, Table 1).…”

“…9 The condition has been diagnosed rarely, with only a handful of cases reported, although the phenotype in the reported cases is very homogeneous. [9][10][11][12] It is likely that similar cases have been simply diagnosed as Larsen syndrome. The inheritance of HSD remained unclear because it was uncertain whether the two original cases were full or half sibs, 9 and all other cases have been sporadic.…”

Ossification of the vertebral column in human foetuses: histological and computed tomography studies

“…Sagittal and coronal bands of uncalcified tissue occur in newborns, most frequently in lumbar region of the vertebral column, and usually disappear through the 1 st and 2 nd year postnatally. Coronal vertebral clefts may appear in congenital malformations of skeletal system [42], such as Desbuquois dysplasia [10], atelosteogenesis [18], chondrodysplasia punctata [12,41], dyssegmental dysplasia [13], Kniest dysplasia [19], short rib polydactyly syndrome, Larsen's syndrome [8,40], humero-spinal dysostosis [7], dysplastic cortical hyperostosis (Kozłowski-Tsuruta syndrome) [23] or in patients with deletions 22q11 [22]. In these cases multiple anomalies are observed including craniofacial abnormalities, shortening of long bones, anomalies of vertebrae (hemivertebrae, butterfly vertebrae, hypoplastic vertebrae), supernumerary ribs, polydactyly and congenital disorders of internal organs (pulmonary hypoplasia, hepatomegaly, congenital heart diseases).…”