{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T15:36:05Z","timestamp":1764084965499,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,5]]},"abstract":"<jats:p>Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity.<\/jats:p>","DOI":"10.1136\/jmg.26.5.320","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"320-325","source":"Crossref","is-referenced-by-count":16,"title":["Moore-Federman syndrome and acromicric dysplasia: are they the same entity?"],"prefix":"10.1136","volume":"26","author":[{"given":"R M","family":"Winter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Patton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Challener","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R F","family":"Mueller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1001\/archinte.1965.03860160024004","article-title":"Familial dwarfism and 'stiff joints'","volume":"115","author":"Moore, W.T.; Federman, D.D.","year":"1965","unstructured":"Moore WT, Federman DD. Familial dwarfism and 'stiff joints'. Arch Intern Med 1965;115:398-404.","journal-title":"Arch Intern Med"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/ajmg.1320190310","volume":"19","author":"Spranger, J.; Gilbert, E.F.; Arya, S.","year":"1984","unstructured":"Spranger J, Gilbert EF, Arya S, et al. Geleophysic dysplasia. Am J Med Genet 1984;19:487-99.","journal-title":"Geleophysic dysplasia. Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1002\/ajmg.1320240307","volume":"24","author":"Maroteaux, P.; Stanescu, R.; Stanescu, V.","year":"1986","unstructured":"Maroteaux P, Stanescu R, Stanescu V, et al. Acromicric dysplasia. Am J Med Genet 1986;24:447-59.","journal-title":"Am J Med Genet"},{"key":"ref_4","article-title":"Recognizable patterns of human malformation","author":"Smith, D.W.","year":"1982","unstructured":"Smith DW. Recognizable patterns of human malformation. 3rd ed. Philadelphia: Saunders, 1982.","edition":"3rd ed"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"397","DOI":"10.2106\/00004623-195941030-00003","article-title":"Levi's pleonosteosis: a study of a family with a review of the literature","volume":"41","author":"Rukavina, J.G.; Falls, H.F.; Holt, J.F.; Block, W.D.","year":"1959","unstructured":"Rukavina JG, Falls HF, Holt JF, Block WD. Levi's pleonosteosis: a study of a family with a review of the literature. J Bone Joint Surg [Am] 1959;41:397-408.","journal-title":"J Bone Joint Surg [Am]"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/S0022-3476(77)80902-5","article-title":"A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressive stiffness of the joints, and a high-pitched voice in two siblings","volume":"91","author":"Pfeiffer, R.A.; Palm, D.; Teller, W.","year":"1977","unstructured":"Pfeiffer RA, Palm D, Teller W. A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressive stiffness of the joints, and a high-pitched voice in two siblings. 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