{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:53Z","timestamp":1760730533446,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,7]]},"abstract":"<jats:p>We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1\/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have shown characteristic features of both conditions and have grown less well than expected for achondroplasia. Radiographs show the striking synergistic effects of the two conditions. MRI in both sibs confirmed brain stem compression at the foramen magnum. This may be an important complication and should be actively sought in any double heterozygote.<\/jats:p>","DOI":"10.1136\/jmg.31.7.565","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"565-569","source":"Crossref","is-referenced-by-count":7,"title":["Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia."],"prefix":"10.1136","volume":"31","author":[{"given":"C G","family":"Woods","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J G","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Mayne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,7,1]]},"reference":[{"key":"ref_1","first-page":"435","article-title":"Standard growth curves for achondroplasia","volume":"93","author":"Horton, W.A.","year":"1978","unstructured":"Horton WA. Standard growth curves for achondroplasia. 7 Pediatr 1978;93:435-8."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/ajmg.1320070414","article-title":"Confidence bands for the growth of head circumference in achondroplastic children during the first year of life","volume":"7","author":"Dawson, D.V.","year":"1980","unstructured":"Dawson DV. Confidence bands for the growth of head circumference in achondroplastic children during the first year of life. Am 7 Med Genet 1980;7:529-32.","journal-title":"Am 7 Med Genet"},{"key":"ref_3","first-page":"55","article-title":"Bone dysplasias: an atlas of constitutional disorders of skeletal development","author":"Spranger, J.W.; Langer, L.O.; Wiedemann, H.R.","year":"1974","unstructured":"Spranger JW, Langer LO, Wiedemann HR. Bone dysplasias: an atlas of constitutional disorders of skeletal development. Philadelphia: Saunders, 1974:55-61."},{"issue":"6","key":"ref_4","first-page":"187","volume":"11","author":"Pseudoachondroplasia, Hall J.G.","year":"1975","unstructured":"Hall JG. Pseudoachondroplasia. Birth Defects 1975;11(6): 187-202.","journal-title":"Birth Defects"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/BF00442750","article-title":"Long term neurological sequelae in achondroplasia","volume":"143","author":"Hecht, J.T.","year":"1984","unstructured":"Hecht JT. Long term neurological sequelae in achondroplasia. Eur J Pediatr 1984;143:58-60.","journal-title":"Eur J Pediatr"},{"key":"ref_6","first-page":"772","article-title":"Patient with double heterozygosity for achondroplasia and pseudoachondroplasia","volume":"47","author":"Langer, L.O.; Schaefer, G.B.; Wadsworth, D.T.","year":"1993","unstructured":"Langer LO, Schaefer GB, Wadsworth DT. Patient with double heterozygosity for achondroplasia and pseudoachondroplasia. Am J Med Genet 1993;47:772-81.","journal-title":"Am J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/ajmg.1320160404","article-title":"Homozygous achondroplasia with survival beyond infancy","volume":"16","author":"Pauli, R.M.; Conroy, M.M.; Langer, L.O.","year":"1983","unstructured":"Pauli RM, Conroy MM, Langer LO, et al. Homozygous achondroplasia with survival beyond infancy. Am 7 Med Genet 1983;16:459-73.","journal-title":"Am 7 Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.7.565","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:17:07Z","timestamp":1760728627000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.7.565"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,7]]},"references-count":7,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1994,7,1]]},"published-print":{"date-parts":[[1994,7]]}},"alternative-id":["10.1136\/jmg.31.7.565"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.7.565","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,7]]}}}