Case report: humero-spinal dysostosis

Sparks, M J W; Gaines, Peter A.; Levick, R.K.

doi:10.1016/s0009-9260(05)81977-4

Cited by 2 publications

(1 citation statement)

References 8 publications

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“…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.…”

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

Hermanns

Unger

Rossi

et al. 2008

The American Journal of Human Genetics

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Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum.

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confidence: 99%