{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T09:42:54Z","timestamp":1770284574883,"version":"3.49.0"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,8]]},"abstract":"<jats:p>A newborn male with cri-du-chat syndrome, congenital nuclear cataracts, microspherophakia, and probably ectopic lenses is reported. Microspherophakia in cri-du-chat syndrome has not been previously described. The congenital cataracts were inherited from his mother who had a balanced 5;13 translocation; the two events are considered to be coincidental and a possible 'position effect' was excluded, since the other members of her family with congenital cataracts, were chromosomally normal. This is the fourth case reported where familial cri-du-chat syndrome involves chromosomes 5p and 13q.<\/jats:p>","DOI":"10.1136\/jmg.20.4.304","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"304-307","source":"Crossref","is-referenced-by-count":11,"title":["Unusual ocular findings in an infant with cri-du-chat syndrome."],"prefix":"10.1136","volume":"20","author":[{"given":"S","family":"Kitsiou-Tzeli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H D","family":"Dellagrammaticas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C B","family":"Papas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I D","family":"Ladas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C S","family":"Bartsocas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,8,1]]},"reference":[{"key":"ref_1","first-page":"3098","article-title":"Trois cas de deletion partielle du bras court d'un chromosome 5","volume":"257","author":"Lejeune, J.; Lafourcade, J.; Berger, R.","year":"1963","unstructured":"Lejeune J, Lafourcade J, Berger R, et al. Trois cas de deletion partielle du bras court d'un chromosome 5. CR Acad Sci (D) (Paris) 1963;257:3098-102.","journal-title":"CR Acad Sci (D) (Paris)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1159\/000129824","article-title":"Chromosomal autoradiography in the cri-du-chat syndrome","volume":"3","author":"German, J.; Lejeune, J.; McIntyre, M.N.; de Grouchy, J.","year":"1964","unstructured":"German J, Lejeune J, McIntyre MN, de Grouchy J. Chromosomal autoradiography in the cri-du-chat syndrome. Cytogenetics 1964;3:347-52.","journal-title":"Cytogenetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/0002-9394(72)90465-5","article-title":"Ocular abnormalities in the cri-du-chat syndrome","volume":"73","author":"Howard, R.O.","year":"1972","unstructured":"Howard RO. Ocular abnormalities in the cri-du-chat syndrome. Am J Ophihalmol 1972;73:949-54.","journal-title":"Am J Ophihalmol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/BF00394291","article-title":"The cri-du-chat syndrome","volume":"44","author":"Niebuhr, E.","year":"1978","unstructured":"Niebuhr E. The cri-du-chat syndrome. Hum Genet 1978; 44:227-75.","journal-title":"Hum Genet"},{"key":"ref_5","first-page":"143","article-title":"Cytological observations in 35 individuals with a 5pkaryotype. fHiniG enet","volume":"42","author":"Niebuhr, E.","year":"1978","unstructured":"Niebuhr E. Cytological observations in 35 individuals with a 5pkaryotype. fHiniG enet 1978;42:143-56."},{"key":"ref_6","article-title":"Phenazopyridine is a commonly used urinary Received for publication","volume-title":"Accepted for publication","year":"1982","unstructured":"Phenazopyridine is a commonly used urinary Received for publication 13 October 1982. Accepted for publication 11 November 1982."},{"key":"ref_7","article-title":"Methaemoglobinaemia is a rare side effect of the drug, first reported by Crawford et a1l in 1951 in an infant. Since then 11 cases have been reported, most associated with ingestion of many times the usual therapeutic dose. Only two cases have been reported with standard dosages,2 and these occurred in patients with mild renal insufficiency. In none of the reported cases has an abnormality of erythrocyte cytochrome b5 reductase (NADH-methaemoglobin reductase) activity been documented. Decreased activity of this enzyme has been reported in subjects who are especially susceptible to toxic methaemoglobinaemia secondary to ingestion of oxidant drugs.3 4 We report a case of life threatening methaemoglobinaemia in a patient with decreased reductase activity after ingestion of near-therapeutic amounts of phenazopyridine","author":"analgesic","unstructured":"analgesic. Methaemoglobinaemia is a rare side effect of the drug, first reported by Crawford et a1l in 1951 in an infant. Since then 11 cases have been reported, most associated with ingestion of many times the usual therapeutic dose. Only two cases have been reported with standard dosages,2 and these occurred in patients with mild renal insufficiency. In none of the reported cases has an abnormality of erythrocyte cytochrome b5 reductase (NADH-methaemoglobin reductase) activity been documented. Decreased activity of this enzyme has been reported in subjects who are especially susceptible to toxic methaemoglobinaemia secondary to ingestion of oxidant drugs.3 4 We report a case of life threatening methaemoglobinaemia in a patient with decreased reductase activity after ingestion of near-therapeutic amounts of phenazopyridine."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.4.304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:10:45Z","timestamp":1760771445000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.4.304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,8]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1983,8,1]]},"published-print":{"date-parts":[[1983,8]]}},"alternative-id":["10.1136\/jmg.20.4.304"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.4.304","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,8]]}}}