{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:35:10Z","timestamp":1762004110145,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,6]]},"abstract":"<jats:p>A child is presented with mucopolysaccharidosis VII (beta-glucuronidase deficiency), bringing to six the number of reported patients with the infantile onset form of this disorder. This patient exhibited the following features, previously unrecognised as part of this syndrome: presentation in the neonatal period, progressive joint contractures, and hydrocephalus. This child's course and data from published reports indicate that mucopolysaccharidosis VII, unlike the other known mucopolysaccharidoses, is clinically recognisable in the newborn period and is most likely to be associated with moderate mental deficiency which does not progress over time.<\/jats:p>","DOI":"10.1136\/jmg.18.3.237","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"237-239","source":"Crossref","is-referenced-by-count":16,"title":["Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy."],"prefix":"10.1136","volume":"18","author":[{"given":"H E","family":"Hoyme","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K L","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Higginbottom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J S","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0022-3476(73)80162-3","article-title":"Beta glucuronidase deficiency. Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis","volume":"82","author":"Sly, W.S.; Quinton, B.A.; McAlister, W.H.; Rimoin, D.L.","year":"1973","unstructured":"Sly WS, Quinton BA, McAlister WH, Rimoin DL. Beta glucuronidase deficiency. Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr 1973;82:249-57.","journal-title":"J Pediatr"},{"key":"ref_2","first-page":"149","article-title":"Mucopolysaccharidosis VII: beta glucuronidase deficiency","volume":"23","author":"Gehler, J.; Cantz, M.; Tolksdorf, M.; Spranger, J.; Gilbert, E.; Drube, H.","year":"1974","unstructured":"Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H. Mucopolysaccharidosis VII: beta glucuronidase deficiency. Humangenetik 1974;23:149-58.","journal-title":"Humangenetik"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/S0022-3476(75)80968-1","article-title":"Variation in the phenotypic expression of beta glucuronidase deficiency","volume":"86","author":"Beaudet, A.L.; DiFerrante, N.M.; Ferry, G.D.; Nichols, B.L.; Mullins, C.E.","year":"1975","unstructured":"Beaudet AL, DiFerrante NM, Ferry GD, Nichols BL, Mullins CE. Variation in the phenotypic expression of beta glucuronidase deficiency. J Pediatr 1975;86:388-94.","journal-title":"J Pediatr"},{"key":"ref_4","first-page":"545","article-title":"The mucopolysaccharidoses","volume-title":"control and disease","author":"Sly, W.S.","year":"1980","unstructured":"Sly WS. The mucopolysaccharidoses In: Bondy PK, Rosenberg LE, eds. Metabolic control and disease. 8th ed. Philadelphia: Saunders, 1980: 545-81.","edition":"8th ed"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1203\/00006450-197210000-00002","article-title":"I-cell disease: biochemical studies","volume":"6","author":"Leroy, J.G.; Ho, M.W.; MacBrinn, M.C.","year":"1972","unstructured":"Leroy JG, Ho MW, MacBrinn MC, et al. I-cell disease: biochemical studies. Pediatr Res 1972;6:752-7.","journal-title":"Pediatr Res"},{"key":"ref_6","first-page":"251","article-title":"Different clinical and biochemical phenotypes associated with beta glucuronidase deficiency","author":"Danes, B.S.; Degnan, M.","year":"1974","unstructured":"Danes BS, Degnan M. Different clinical and biochemical phenotypes associated with beta glucuronidase deficiency, In: Bergsma D, ed. Skeletal dysplasias. New York: National Foundation-March of Dimes, 1974:251-7."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00442197","article-title":"Beta glucuronidase deficiency in a girl with unusual clinical features","volume":"126","author":"Pfeiffer, R.A.; Kresse, H.; Baumer, N.; Sattinger, E.","year":"1977","unstructured":"Pfeiffer RA, Kresse H, Baumer N, Sattinger E. Beta glucuronidase deficiency in a girl with unusual clinical features. Eur J Pediatr 1977;126:155-61.","journal-title":"Eur J Pediatr"},{"key":"ref_8","unstructured":"SUMMARY A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed.","article-title":"SUMMARY A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported"},{"article-title":"The most common form of the Klein-Waardenburg (KW) syndrome is characterised by lateral displacement of the medial canthi and lacrimal punctae.1 The Received for publication","year":"1980","key":"ref_9","unstructured":"The most common form of the Klein-Waardenburg (KW) syndrome is characterised by lateral displacement of the medial canthi and lacrimal punctae.1 The Received for publication 1 July 1980"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.3.237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:11:15Z","timestamp":1760728275000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.3.237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,6]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1981,6,1]]},"published-print":{"date-parts":[[1981,6]]}},"alternative-id":["10.1136\/jmg.18.3.237"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.3.237","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,6]]}}}