{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:36Z","timestamp":1760783076729,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1970,12]]},"DOI":"10.1136\/jmg.7.4.379","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:49:07Z","timestamp":1226328547000},"page":"379-382","source":"Crossref","is-referenced-by-count":11,"title":["A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies."],"prefix":"10.1136","volume":"7","author":[{"given":"A E","family":"Emery","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M M","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1970,12,1]]},"reference":[{"key":"ref_1","article-title":"Dent and Normand","author":"Maroteaux; Lamy","year":"1964","unstructured":"Maroteaux and Lamy (1964) Dent and Normand (1964) McKusick (1966) Beals (1968) Wilson, Chrispin, and Carter (1969) McKusick et al. (1964) Spahr and Spahr-Hartmann (1961) Comings, Papazian, and Schoene (1968)","journal-title":"McKusick et al. (1964) Spahr and Spahr-Hartmann; Beals"},{"article-title":"which the hands and feet are small, is inherited as an autosomal dominant trait but is associated with particular x-ray changes which were not seen in the proband","author":"dysostosis (Garces, Peripheral","key":"ref_2","unstructured":"Peripheral dysostosis (Garces et al., 1969), in which the hands and feet are small, is inherited as an autosomal dominant trait but is associated with particular x-ray changes which were not seen in the proband."},{"key":"ref_3","unstructured":"The deformities of the hands in the proband and her mother are sufficiently distinctive to be easily recognizable. The only other conditions in which it appears that somewhat similar deformities may occur are arthromyodysplasia congenita (Gorlin and Pindborg, 1964) and cranio-carpo-tarsal dysplasia (Weinstein and Gorlin, 1969). However other features of the former syndrome, such as involvement of larger joints, muscle hypoplasia, and multiple pterygia were not present in the proband. In the case of cranio-carpo-tarsal dysplasia, affected individuals also have an abnormally small mouth, characteristic 'whistling face' appearance, and particular facial x-ray changes, features that our patient did not have.","article-title":"The deformities of the hands in the proband and her mother are sufficiently distinctive to be easily recognizable. The only other conditions in which it appears that somewhat similar deformities may occur are arthromyodysplasia congenita (Gorlin and Pindborg, 1964) and cranio-carpo-tarsal dysplasia (Weinstein and Gorlin, 1969). However other features of the former syndrome, such as involvement of larger joints, muscle hypoplasia, and multiple pterygia were not present in the proband. In the case of cranio-carpo-tarsal dysplasia, affected individuals also have an abnormally small mouth, characteristic 'whistling face' appearance, and particular facial x-ray changes, features that our patient did not have"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.2106\/00004623-196850060-00018","article-title":"Cartilage-hair-hypoplasia. A case report","volume":"50","author":"Beals, R.K.","year":"1968","unstructured":"Beals, R. K. (1968). Cartilage-hair-hypoplasia. A case report. Journal of Bone andJoint Surgery, 50A, 1245-1249.","journal-title":"Journal of Bone andJoint Surgery"},{"key":"ref_5","first-page":"63","article-title":"Conradi's disease chondrodystrophia calcifans congenita, congenital stippled epiphyses","volume":"72","author":"Comings, D.E.; Papazian, C.; Schoene, H.R.","year":"1968","unstructured":"Comings, D. E., Papazian, C., and Schoene, H. R. (1968). Conradi's disease chondrodystrophia calcifans congenita, congenital stippled epiphyses. Journal of Pediatrics, 72, 63-69.","journal-title":"Journal of Pediatrics"},{"key":"ref_6","first-page":"39","article-title":"Metaphysial dysostosis, type Schmid","author":"Dent, C.E.; Normand, I.C.S.","year":"1964","unstructured":"Dent, C. E., and Normand, I. C. S. (1964). Metaphysial dysostosis, type Schmid. Archives of Disease in Childhood, 39,444-454.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1001\/archinte.1964.00280080084016","article-title":"The metacarpal index","volume":"113","author":"Eldridge, R.","year":"1964","unstructured":"Eldridge, R. (1964). The metacarpal index. Archives of Internal Medicine, 113, 248-254.","journal-title":"Archives of Internal Medicine"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/S0022-3476(69)80135-6","article-title":"Peripheral dysostosis: investigation of metabolic and endocrine functions","volume":"74","author":"Garces, L.Y.; Blank, E.; Drash, A.L.; Kenny, F.M.","year":"1969","unstructured":"Garces, L. Y., Blank, E., Drash, A. L., and Kenny, F. M. (1969). Peripheral dysostosis: investigation of metabolic and endocrine functions. Journal of Pediatrics, 74, 730-737.","journal-title":"Journal of Pediatrics"},{"key":"ref_9","article-title":"Syndromes of the Head and Neck","author":"Gorlin, R.J.; Pindborg, J.J.","year":"1964","unstructured":"Gorlin, R. J., and Pindborg, J. J. (1964). Syndromes of the Head and Neck. McGraw-Hill, New York."},{"key":"ref_10","article-title":"Heritable Disorders of Connective Tissue","author":"McKusick, V.A.","year":"1966","unstructured":"McKusick, V. A. (1966). Heritable Disorders of Connective Tissue, 3rd ed. Mosby, St. Louis.","edition":"3rd ed"},{"key":"ref_11","first-page":"306","volume":"115","author":"McKusick, V.A.; Egeland, J.A.; Eldridge, R.; Krusen, D.E.","year":"1964","unstructured":"McKusick, V. A., Egeland, J. A., Eldridge, R., and Krusen, D. E. (1964). Dwarfism in the Amish. I. Ellis-van Creveld syndrome. Bulletin of theJohns Hopkins Hospital, 115, 306-336.","journal-title":"Dwarfism in the Amish. I. Ellis-van Creveld syndrome. Bulletin of theJohns Hopkins Hospital"},{"key":"ref_12","first-page":"91","article-title":"Achondroplasia in man and animals","volume":"33","author":"Maroteaux, P.; Lamy, M.","year":"1964","unstructured":"Maroteaux, P., and Lamy, M. (1964). Achondroplasia in man and animals. Clinical Orthopaedics and Related Research, 33, 91-103.","journal-title":"Clinical Orthopaedics and Related Research"},{"key":"ref_13","first-page":"836","article-title":"Dysostose metaphysaire familiale. eitude de 4 cas dans une fratrie","volume":"16","author":"Spahr, A.; Spahr-Hartmann, I.","year":"1961","unstructured":"Spahr, A., and Spahr-Hartmann, I. (1961). Dysostose metaphysaire familiale. eitude de 4 cas dans une fratrie. Helvetica Paediatrica Acta, 16, 836-849.","journal-title":"Helvetica Paediatrica Acta"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1001\/archpedi.1969.02100030429007","article-title":"Cranio-carpotarsal dysplasia or the whistling face syndrome","volume":"117","author":"Weinstein, S.; Gorlin, R.J.","year":"1969","unstructured":"Weinstein, S., and Gorlin, R. J. (1969). Cranio-carpotarsal dysplasia or the whistling face syndrome. American Journal of Diseases of Children, 117, 427-433.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_15","first-page":"44","article-title":"Diastrophic dwarfism","year":"1969","unstructured":"Wilson, D. W., Chrispin, A. R., and Carter, C. 0. (1969). Diastrophic dwarfism. Archives of Disease in Childhood, 44,48-58.","journal-title":"Archives of Disease in Childhood"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.7.4.379","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:48:52Z","timestamp":1760734132000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.7.4.379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1970,12]]},"references-count":15,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1970,12,1]]},"published-print":{"date-parts":[[1970,12]]}},"alternative-id":["10.1136\/jmg.7.4.379"],"URL":"https:\/\/doi.org\/10.1136\/jmg.7.4.379","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1970,12]]}}}