Humero-Spinal Dysostosis With Congenital Heart Disease

Kozlowski, K.; Celermajer, John M.; Tink, Arnold

doi:10.1001/archpedi.1974.02110220105015

Cited by 20 publications

(16 citation statements)

References 5 publications

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“…The two original patients with HSD reported by Kozlowski et al [1974] had some evidence of tricuspid and mitral insufficiency, and the authors believed that to be an integral feature of the newly described condition. The patient with HSD reported by Hall in 1997 (Patient 15 in this series) also had thickening of the mitral valve leaflets and at follow-up at age 15 years showed a dysplastic mitral valve with stenosis and moderate insufficiency, as well as mildly thickened aortic valve.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Unger

Lausch

Rossi

et al. 2010

American J of Med Genetics Pt A

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We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional families with CHST3 mutations and we report here on a series of 24 patients in 23 families. The diagnostic hypothesis prior to molecular analysis had been: Larsen syndrome (15 families), humero-spinal dysostosis (four cases), chondrodysplasia with multiple dislocations (CDMD "Megarbane type"; two cases), Desbuquois syndrome (one case), and spondylo-epiphyseal dysplasia (one case). In spite of the different diagnostic labels, the clinical features in these patients were similar and included dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The most useful radiographic clues were the changes of the lumbar vertebrae. Twenty-four different CHST3 mutations were identified; 16 patients had homozygous mutations. We conclude that CHST3 deficiency presents at birth with congenital dislocations of knees, hips, and elbows, and is often diagnosed initially as Larsen syndrome, humero-spinal dysostosis, or chondrodysplasia with dislocations. The incidence of CHST3 deficiency seems to be higher than assumed so far. The clinical and radiographic pattern (joint dislocations, vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance) is characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations such as filamin B-associated dominant Larsen syndrome and Desbuquois syndrome.

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Section: Discussionmentioning

confidence: 99%

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Unger

Lausch

Rossi

et al. 2010

American J of Med Genetics Pt A

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“…The report by Kozlowski et al [1974], in which anomalies of the urinary tract and vertebral anomalies were mentioned, the report by Hurst et al [1988], in which the proband had microcephaly and a n abnormal facial appearance, and the report by Tamari and Goodman [19741, which mentioned short stature, mental retardation, abnormal face and asymmetry of the limbs as other symptoms, are likely t o represent different conditions because of the additional findings, not present in our family. Syndromes and case reports that resemble our family most are the Holt-Oram syndrome [Hurst et al, 1991;Boehme and Sotar, 19891, heart-hand syndrome type I1 (Tabatznik type) [Silengo et al, 1990;Temtamy and McKusick, 19781 and the case reports by Jones et al [1973], and Liebenberg [1973].…”

Section: Discussionmentioning

confidence: 71%

Autosomal dominant familial radial luxation, carpal fusion and scapular dysplasia with variable heart defects

1996

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“…Revised version accepted for publication 4 June 1990. Tw brothers with heart defects and limb shortening: case reports and review Lateral spine radiograph wvith coronal clefts throughout the dorsal spine.…”

Section: Hallmentioning

confidence: 99%