{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T20:10:13Z","timestamp":1781122213954,"version":"3.54.1"},"reference-count":12,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,8]]},"abstract":"<jats:p>We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of all toe nails. In addition, there is absence\/hypoplasia of the distal phalanges of the hands and feet. Our family confirms this syndrome as a distinct entity with autosomal dominant inheritance.<\/jats:p>","DOI":"10.1136\/jmg.32.8.638","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"638-641","source":"Crossref","is-referenced-by-count":17,"title":["Anonychia and absence\/hypoplasia of distal phalanges (Cooks syndrome): report of a second family."],"prefix":"10.1136","volume":"32","author":[{"given":"N C","family":"Nevin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P S","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D J","family":"Eedy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Shepherd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1995,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1111\/j.1399-0004.1985.tb00189.x","article-title":"A new nail dysplasia syndrome with onychonychia and absence and\/or hypoplasia of distal phalanges","volume":"27","author":"Cooks, R.G.; Hertz, M.; Katznelson, M.B.M.; Goodman, R.M.","year":"1985","unstructured":"Cooks RG, Hertz M, Katznelson MBM, Goodman RM. A new nail dysplasia syndrome with onychonychia and absence and\/or hypoplasia of distal phalanges. Clin Genet 1985;27:85-91.","journal-title":"Clin Genet"},{"key":"ref_2","article-title":"Mendelian inheritance in nman. A catalog of human genes and genetic disorders","author":"McKusick, V.A.","year":"1994","unstructured":"McKusick VA. Mendelian inheritance in nman. A catalog of human genes and genetic disorders. 1 th ed. Vols 1 and 2. Baltimore: The Johns Hopkins University Press, 1994.","edition":"1 ed."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1097\/00000441-193508000-00007","article-title":"Hereditary onychial dysplasia","volume":"190","author":"Hobbs, M.E.","year":"1935","unstructured":"Hobbs ME. Hereditary onychial dysplasia. 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Eur ]f Pediatr","volume":"138","author":"Pfeiffer, R.A.","year":"1982","unstructured":"Pfeiffer RA. The oto-onycho-peroneal syndrome. A probable genetic entity. Eur ]f Pediatr 1982;138:317-20."},{"key":"ref_11","first-page":"17","article-title":"Multiple ophthalmic anomalies and digital hypoplasia","volume":"26","author":"Chemke, J.M.; Oliver, M.; Mallek, D.","year":"1978","unstructured":"Chemke JM, Oliver M, Mallek D. Multiple ophthalmic anomalies and digital hypoplasia. J Genet Hun 1978;26: 17-24.","journal-title":"J Genet Hun"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1469-1809.1957.tb01302.x","article-title":"Anonychia with ectrodactyly: clinical and linkage data","volume":"22","author":"Lees, D.H.; Lawler, S.D.; Renwick, J.H.; Thoday, J.M.","year":"1957","unstructured":"Lees DH, Lawler SD, Renwick JH, Thoday JM. Anonychia with ectrodactyly: clinical and linkage data. 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