{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:10Z","timestamp":1760764210419,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,8]]},"abstract":"<jats:p>Two brothers are described with a similar physical appearance characterised by minor periorbital anomalies, malar flatness, a maxillary overbite, retrognathia, sloping shoulders, joint hyperextensibility, and minor radiological anomalies. In addition, they had a slowly progressing night blindness, myopia, and extinguished electroretinograms. The mother had mild expression of some of the physical anomalies and a decreased electroretinogram response to red light. We have been unable to find any report of similarly affected children. The possible modes of inheritance are discussed.<\/jats:p>","DOI":"10.1136\/jmg.16.4.309","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"309-313","source":"Crossref","is-referenced-by-count":3,"title":["Night blindness, characteristic facies, and skeletal abnormalities in two brothers."],"prefix":"10.1136","volume":"16","author":[{"given":"A G","family":"Hunter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D R","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M H","family":"Reed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A G","family":"Macrodimitris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,8,1]]},"reference":[{"key":"ref_1","first-page":"81","article-title":"Nephropathie familale avec atteintes osseuse et chorio-retinienne","volume":"69","author":"Antoine, B.; Braun-Vallon, S.; d'Anglejeau, G.; Perrin, D.; Dunod, J.P.; Ryckewaert, A.","year":"1963","unstructured":"Antoine, B., Braun-Vallon, S., d'Anglejeau, G., Perrin, D., Dunod, J. P., and Ryckewaert, A. (1963). Nephropathie familale avec atteintes osseuse et chorio-retinienne. Journal d'Urologie et Nephrologie, 69, 81-89.","journal-title":"Journal d'Urologie et Nephrologie"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/0002-9394(65)92258-0","article-title":"Sex-linked myopic chorioretinal heredo-degeneration","volume":"60","author":"Frangois, J.; De Rouck, A.","year":"1965","unstructured":"Frangois, J., and De Rouck, A. (1965). Sex-linked myopic chorioretinal heredo-degeneration. American Journal of Ophthalmology, 60, 670-678.","journal-title":"American Journal of Ophthalmology"},{"key":"ref_3","article-title":"Ocular Syndromes. Lea and Feibiger","author":"Geeraets, W.J.","year":"1976","unstructured":"Geeraets, W. J. (1976). Ocular Syndromes. Lea and Feibiger, Philadelphia."},{"issue":"2","key":"ref_4","first-page":"\"76","article-title":"The Stickler syndrome (hereditary arthrophthalmology). Birth Defects: Original Article","volume":"11","author":"Herrmann, J.; France, T.D.; Spranger, J.W.; Opitz, J.M.; Wiffier, C.","year":"1975","unstructured":"Herrmann, J., France, T. D., Spranger, J. W., Opitz, J. M., and Wiffier, C. (1975). The Stickler syndrome (hereditary arthrophthalmology). Birth Defects: Original Article Series, 11, No. 2, 76-103. The National Foundation-March of Dimes, New York. Mainzer, F., Saldino, R. M., Ozonoff, M. B., and Hideyo, M. (1970). Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. American Journal ofMedicine, 49, 556-562.","journal-title":"Series; The National Foundation-March of Dimes"},{"key":"ref_5","first-page":"\"417","article-title":"Retinitis pigmentosa without pigment","volume":"81","author":"Pearlman, J.T.; Flood, T.P.; Seiff, S.R.","year":"1976","unstructured":"Pearlman, J. T., Flood, T. P., and Seiff, S. R. (1976). Retinitis pigmentosa without pigment. American Journal of Ophthalmology, 81, 417-419. Popovi&Rolovic, M., Cali&Perisic, N., Bunjevacki, G., and Negovanovic, D. (1976). Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. Archives of Disease in Childhood, 51, 801-803.","journal-title":"American Journal of Ophthalmology; Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities"},{"key":"ref_6","first-page":"29","article-title":"The Hand in Radiologic Diagnosis","author":"Poznanski, A.K.","year":"1974","unstructured":"Poznanski, A. K. (1974). The Hand in Radiologic Diagnosis, pp. 29-44. Saunders, Philadelphia."},{"issue":"3","key":"ref_7","first-page":"\"187","article-title":"The genetics of hand malformations. Birth Defects: Original Article","volume":"14","author":"Temtamy, S.A.; McKusick, V.A.","year":"1978","unstructured":"Temtamy, S. A., and McKusick, V. A. (1978). The genetics of hand malformations. Birth Defects: Original Article Series, 14, No. 3, 187-226. The National Foundation-March of Dimes, New York. Villeverde, M. M., and Da Silva, J. J. (1975). Distal brachyphalangy of the thumb in mental retardation. Journal of Medical Genetics, 12, 401-404.","journal-title":"Series; The National Foundation-March of Dimes"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.4.309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:56:56Z","timestamp":1760763416000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.4.309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,8]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1979,8,1]]},"published-print":{"date-parts":[[1979,8]]}},"alternative-id":["10.1136\/jmg.16.4.309"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.4.309","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,8]]}}}