{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T23:10:42Z","timestamp":1760742642085,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,12]]},"abstract":"<jats:p>A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin.<\/jats:p>","DOI":"10.1136\/jmg.14.6.445","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"445-447","source":"Crossref","is-referenced-by-count":14,"title":["Hunter syndrome presenting as macrocephaly and hydrocephalus."],"prefix":"10.1136","volume":"14","author":[{"given":"S","family":"Yatziv","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C J","family":"Epstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,12,1]]},"reference":[{"key":"ref_1","first-page":"251","article-title":"Communicating hydrocephalus in children with genetic inborn errors of metabolism","volume":"1","author":"Fowler, G.W.; Sukoff, M.; Hamilton, A.; Williams, J.P.","year":"1975","unstructured":"Fowler, G. W., Sukoff, M., Hamilton, A., and Williams, J. P. (1975). Communicating hydrocephalus in children with genetic inborn errors of metabolism. Child's Brain, 1, 251-254.","journal-title":"Child's Brain"},{"key":"ref_2","first-page":"521","article-title":"The Mucopolysaccharidoses. Heritable Disorders of Connective Tissue","author":"McKusick, V.A.","year":"1972","unstructured":"McKusick, V. A. (1972). The Mucopolysaccharidoses. Heritable Disorders of Connective Tissue, 4th ed., pp. 521-686. Mosby, St. Louis.","edition":"4th ed"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1111\/j.1749-6632.1971.tb46934.x","article-title":"Corrective factors for inborn errors of mucopolysaccharide metabolism","volume":"179","author":"Neufeld, E.F.; Cantz, M.J.","year":"1971","unstructured":"Neufeld, E. F., and Cantz, M. J. (1971). Corrective factors for inborn errors of mucopolysaccharide metabolism. Annals of the New York Academy of Sciences, 179, 580-587.","journal-title":"Annals of the New York Academy of Sciences"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1146\/annurev.bi.44.070175.002041","article-title":"Inherited disorders of lysosomal metabolism","volume":"44","author":"Neufeld, E.F.; Lim, T.W.; Shapiro, L.J.","year":"1975","unstructured":"Neufeld, E. F., Lim, T. W., and Shapiro, L. J. (1975). Inherited disorders of lysosomal metabolism. Annual Review of Biochemistry, 44, 357-376.","journal-title":"Annual Review of Biochemistry"},{"key":"ref_5","first-page":"18","article-title":"Micro separation and determination of mammalian acidic glycosaminoglycans (mucopolysaccharides). Analytical Biochemistry","author":"Svejcar, J.; Robertson, W.Van B.","year":"1967","unstructured":"Svejcar, J., and Robertson, W. Van B. (1967). Micro separation and determination of mammalian acidic glycosaminoglycans (mucopolysaccharides). Analytical Biochemistry, 18,333-350."},{"key":"ref_6","first-page":"129","article-title":"The effect of hydrocephalus on intelligence, visual perception, and school attainment","volume":"35","author":"Tew, B.; Laurence, K.M.","year":"1975","unstructured":"Tew, B., and Laurence, K. M. (1975). The effect of hydrocephalus on intelligence, visual perception, and school attainment. Developmental Medicine and Child Neurology, 35, Suppl., 129-134.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_7","first-page":"11","article-title":"Mild and severe Hunter syndrome (MPS II) within the same sibships","author":"Yatziv, S.; Erickson, R.P.; Epstein, C.J.","year":"1977","unstructured":"Yatziv, S., Erickson, R. P., and Epstein, C. J. (1977). Mild and severe Hunter syndrome (MPS II) within the same sibships. Clinical Genetics, 11,319-326.","journal-title":"Clinical Genetics"},{"key":"ref_8","article-title":"Supernumerary small chromosomes have occasionally been reported, appearing mainly as metacentric (Borgaonkar","volume-title":"acrocentric chromosomes (Latta and Hoo","author":"al., 1971, Abbo; Zellweger, 1970, Froland","year":"1966","unstructured":"Supernumerary small chromosomes have occasionally been reported, appearing mainly as metacentric (Borgaonkar et al., 1971; Abbo and Zellweger, 1970; Froland et al., 1963; Gamstorp et al., 1966), or acrocentric chromosomes (Latta and Hoo, 1974). Some of the cases were associated with congenital malformations and others with normal phenotypes (Ellis et al., 1962; Nielsen and Rasmussen, 1975)."},{"key":"ref_9","article-title":"Mosaicism for an extra small ring chromosome (46, XY\/47, XY,+r), was reported in a 10-year-old boy with cheilo-palato-gnathoschisis and mental retardation (Hoo","year":"1974","unstructured":"Mosaicism for an extra small ring chromosome (46,XY\/47,XY,+r), was reported in a 10-year-old boy with cheilo-palato-gnathoschisis and mental retardation (Hoo et al., 1974). We report another patient with mild retardation, midline cleft palate, and mosaicism of 46,XY\/47,XY,+r). The similarity of the clinical findings to the previously reported patient is of interest.","journal-title":"et al; We report another patient with mild retardation, midline cleft palate, and mosaicism of 46, XY\/47, XY,+r). The similarity of the clinical findings to the previously reported patient is of interest"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.6.445","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:31:29Z","timestamp":1760740289000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.6.445"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,12]]},"references-count":9,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1977,12,1]]},"published-print":{"date-parts":[[1977,12]]}},"alternative-id":["10.1136\/jmg.14.6.445"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.6.445","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,12]]}}}