{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T19:01:33Z","timestamp":1772737293869,"version":"3.50.1"},"reference-count":30,"publisher":"Swets & Zeitlinger Publishers","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Genetics"],"published-print":{"date-parts":[[1999,1]]},"DOI":"10.1076\/opge.20.4.233.2267","type":"journal-article","created":{"date-parts":[[2003,2,5]],"date-time":"2003-02-05T08:35:04Z","timestamp":1044434104000},"page":"233-241","source":"Crossref","is-referenced-by-count":4,"title":["A family with autosomal dominant distal arthrogryposis multiplex congenita and Brown syndrome"],"prefix":"10.1076","volume":"20","author":[{"given":"Lucio","family":"Lobefalo","sequence":"first","affiliation":[{"name":"Institute of Ophthalmology, Department of Pediatrics, and Center for Neuromuscular Diseases, University of Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriano","family":"Mancini","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Department of Pediatrics, and Center for Neuromuscular Diseases, University of Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria T.","family":"Petitti","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Department of Pediatrics, and Center for Neuromuscular Diseases, University of Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Verrotti","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Department of Pediatrics, and Center for Neuromuscular Diseases, University of Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Della Loggia","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Department of Pediatrics, and Center for Neuromuscular Diseases, University of Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Di Muzio","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Department of Pediatrics, and Center for Neuromuscular Diseases, University of Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Chiarelli","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Department of Pediatrics, and Center for Neuromuscular Diseases, University of Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pier E.","family":"Gallenga","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Department of Pediatrics, and Center for Neuromuscular Diseases, University of Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"191","published-online":{"date-parts":[[2009,7,8]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"Hall JG Green G Powers E. Arthrogryposis \u2014 clinical and genetic heterogeneity. Presented at the Vth Conference on Birth Defects Montreal August 1977."},{"key":"e_1_2_1_3_1","first-page":"185","volume":"11","author":"Hall JG","year":"1982","unstructured":"Hall JG, Reed SD, Green G. The distal arthrogryposis: delineation of new entities. Review and nosologic discussion. Am J Med Genet 1982; 11:185\u2013239.","journal-title":"Green G. The distal arthrogryposis: delineation of new entities. Review and nosologic discussion. Am J Med Genet"},{"key":"e_1_2_1_4_1","first-page":"425","article-title":"Brief clinicalreport","volume":"20","author":"Kawira EL","year":"1985","unstructured":"Kawira EL, Bender HA. Brief clinicalreport. An unusual distal arthro-gryposis. Am J Med Genet 1985;20: 425\u2013429.","journal-title":"An unusual distal arthro-gryposis. Am J Med Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ajmg.1320240206","article-title":"Distal arthrogryposis type II: a family with varying congenital abnormalities","volume":"24","author":"Reiss JA","year":"1986","unstructured":"Reiss JA, Sheffield U. Distal arthrogryposis type II: a family with varying congenital abnormalities. Am J Med Genet 1986;24:255\u2013267.","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/ajmg.1320330218","article-title":"Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?","volume":"33","author":"Moore CA","year":"1989","unstructured":"Moore CA, Weaver DD. Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II? Am J Med Genet 1989;33:231\u2013237.","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","unstructured":"Lai MMR Tettenborn MA Hall JG Smith LJ Berry AC. A new form of autosomal dominant arthrogryposis. J Med Genet 1991;28:7o1-7o3.","DOI":"10.1136\/jmg.28.10.701"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.3928\/0191-3913-19890701-11"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/jmg.11.1.91","article-title":"Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance","volume":"11","author":"Rosenmann A","year":"1974","unstructured":"Rosenmann A, Arad I. Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance. J Med Genet 1974;11:91\u201394.","journal-title":"J Med Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818309007794"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(86)80177-0"},{"key":"e_1_2_1_13_1","first-page":"141","article-title":"Arthrogryposis multiplex congenita and the Turner phenotype","volume":"123","author":"Kreiger I","year":"1972","unstructured":"Kreiger I, Espiritu CE. Arthrogryposis multiplex congenita and the Turner phenotype. Am J Dis Child 1972;123: 141\u2013144.","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(94)90081-7"},{"key":"e_1_2_1_15_1","first-page":"75","article-title":"Yarom R","volume":"19","author":"Paez JH","year":"1982","unstructured":"Paez JH, Tuulonen A, Yarom R. Ocular findings in arthrogryposis multiplex congenita. J Paediatr Ophthalmol Strab 1982;19:75\u201379.","journal-title":"Ocular findings in arthrogryposis multiplex congenita. J Paediatr Ophthalmol Strab"},{"key":"e_1_2_1_16_1","unstructured":"Kimura J. Electrodiagnosis in Diseases of Nerves and Muscles 2nd ed. Philadelphia: Davis 1989; 103\u2013138."},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880050403"},{"key":"e_1_2_1_18_1","unstructured":"Dubowitz V. Muscle biopsy. A Practical Approach 2nd ed. London: Bailli\u00e8re-Tindall 1985; 3\u201340."},{"key":"e_1_2_1_19_1","first-page":"74","article-title":"Doc Ophthalmol Proc Series","author":"Ossoinig KC","year":"1992","unstructured":"Ossoinig KC. The diagnosis and differential diagnosis of neoplastic lesions of the extraocular muscle with standardized echography. In: Tane S, editor. Proceedings of the 14th SIDUO Congress, Tokyo, Japan, 1992. Doc Ophthalmol Proc Series. Dordrecht, Boston, London: Kluwer Academic Publisher, 1992; 74\u201379.","journal-title":"Dordrecht, Boston, London: Kluwer Academic Publisher"},{"key":"e_1_2_1_20_1","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/S0022-3476(66)80464-X","article-title":"Arthrogryposis multiplex congenita","volume":"68","author":"Blattner RJ","year":"1966","unstructured":"Blattner RJ. Arthrogryposis multiplex congenita. J Pediatr 1966;68:823\u2013825.","journal-title":"J Pediatr"},{"key":"e_1_2_1_21_1","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1136\/adc.34.178.505","article-title":"A case of arthrogryposis multiplex congenita with lesions in the nervous system","volume":"34","author":"Fowler M","year":"1959","unstructured":"Fowler M. A case of arthrogryposis multiplex congenita with lesions in the nervous system. Arch Dis Child 1959;34;505\u2013510.","journal-title":"Arch Dis Child"},{"key":"e_1_2_1_22_1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1111\/j.1399-0004.1978.tb02096.x","article-title":"A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermato-glyphics","volume":"14","author":"Sack GH Jr","year":"1978","unstructured":"Sack GH Jr. A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermato-glyphics. Clin Genet 1978;14: 317\u2013323.","journal-title":"Clin Genet"},{"key":"e_1_2_1_23_1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.3928\/0191-3913-19870101-04","article-title":"Management of superior oblique palsy after surgery for true Brown's syndrome","volume":"24","author":"Eustis HS","year":"1987","unstructured":"Eustis HS, O'Reilly C, Crawford JS. Management of superior oblique palsy after surgery for true Brown's syndrome. J Pediatr Ophthalmol Strab 1987;24:10\u201317.","journal-title":"J Pediatr Ophthalmol Strab"},{"key":"e_1_2_1_24_1","first-page":"124","volume":"89","author":"Helveston EM","year":"1982","unstructured":"Helveston EM, Merriam WW, Ellis FD. The trochlea: a study of the anatomy and physiology. Ophthalmology 1982;89:124\u2013133.","journal-title":"Ellis FD. The trochlea: a study of the anatomy and physiology. Ophthalmology"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(89)90100-8"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-195436060-00009"},{"key":"e_1_2_1_27_1","first-page":"326","article-title":"Stenosing tenovaginitis of the thumb in infants","volume":"24","author":"Zadek I","year":"1942","unstructured":"Zadek I. Stenosing tenovaginitis of the thumb in infants. J Bone Joint Surg 1942;24:326\u2013328.","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.57.11.859"},{"key":"e_1_2_1_29_1","first-page":"880","article-title":"Gay AJ","volume":"71","author":"Zappia RJ","year":"1971","unstructured":"Zappia RJ, Winkelman JZ, Gay AJ. Intraocular pressure changes in normal subjects and the adhesive muscle syndrome. Am J Ophthalmol 1971;71:880\u2013883.","journal-title":"Intraocular pressure changes in normal subjects and the adhesive muscle syndrome. Am J Ophthalmol"},{"key":"e_1_2_1_30_1","unstructured":"Gallenga PE Mastropasqua L Mancini A Ciancaglini M Lobefalo L. Endocrine ophthalmopathy: a new ocular sign (Gallenga's sign). Acta XV Cong Int Soc Ophthalmic Ultrasound 22\u201327 January 1994 (in press)."},{"key":"e_1_2_1_31_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1097\/00003086-198504000-00005","article-title":"Neurologic aspects of arthrogryposis multiplex congenita","volume":"194","author":"Banker BQ","year":"1985","unstructured":"Banker BQ. Neurologic aspects of arthrogryposis multiplex congenita. Clin Orthop Relat Res 1985;194:30\u201343.","journal-title":"Clin Orthop Relat Res"}],"container-title":["Ophthalmic Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.tandfonline.com\/doi\/pdf\/10.1076\/opge.20.4.233.2267","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T18:02:40Z","timestamp":1772733760000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.tandfonline.com\/doi\/full\/10.1076\/opge.20.4.233.2267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,1]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1999,1]]}},"alternative-id":["10.1076\/opge.20.4.233.2267"],"URL":"https:\/\/doi.org\/10.1076\/opge.20.4.233.2267","relation":{},"ISSN":["1381-6810","1744-5094"],"issn-type":[{"value":"1381-6810","type":"print"},{"value":"1744-5094","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,1]]}}}