{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T13:58:05Z","timestamp":1649167085591},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2008,2,20]],"date-time":"2008-02-20T00:00:00Z","timestamp":1203465600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2008,12]]},"DOI":"10.1007\/s00431-008-0678-1","type":"journal-article","created":{"date-parts":[[2008,2,19]],"date-time":"2008-02-19T12:13:14Z","timestamp":1203423194000},"page":"1385-1388","source":"Crossref","is-referenced-by-count":1,"title":["A variant or a \u201cnew\u201d postaxial acrofacial dysostosis syndrome"],"prefix":"10.1007","volume":"167","author":[{"given":"Jerzy","family":"Su\u0142ko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dariusz","family":"Kotulski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazimierz","family":"Kozlowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,2,20]]},"reference":[{"key":"678_CR1","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1136\/jmg.22.1.36","volume":"22","author":"SA Al-Awadi","year":"1985","unstructured":"Al-Awadi SA, Teebi AS, Farag I, Naguib KM, el-Khalifa MY (1985) Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J Med Genet 22:36\u201338","journal-title":"J Med Genet"},{"key":"678_CR2","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/ajmg.1320410411","volume":"41","author":"R Arens","year":"1991","unstructured":"Arens R, Reichman B, Katznelson MB, Goodman RM (1991) New form of postaxial acrofacial dysostosis? Am J Med Genet 41:438\u2013443","journal-title":"Am J Med Genet"},{"key":"678_CR3","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1007\/BF00595909","volume":"148","author":"D Barbuti","year":"1989","unstructured":"Barbuti D, Orazi C, Reale A, Paradisi C (1989) Postaxial acrofacial dysostosis or Miller syndrome. A case report. Eur J Pediat 148:445\u2013446","journal-title":"Eur J Pediat"},{"key":"678_CR5","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1111\/j.1399-0004.1993.tb03816.x","volume":"43","author":"K Chrzanowska","year":"1993","unstructured":"Chrzanowska K, Fryns JP (1993) Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance. Clinical Genet 43:270","journal-title":"Clinical Genet"},{"key":"678_CR4","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1111\/j.1399-0004.1989.tb02922.x","volume":"35","author":"KH Chrzanowska","year":"1989","unstructured":"Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Wisniewski L, Van den Berghe H (1989) Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients. Clin Genet 35:157\u2013160","journal-title":"Clin Genet"},{"key":"678_CR6","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1136\/jmg.24.7.422","volume":"24","author":"D Donnai","year":"1987","unstructured":"Donnai D, Hughes HE, Winter RM (1987) Postaxial acrofacial dysostosis (Miller) syndrome. J Med Genet 24:422\u2013425","journal-title":"J Med Genet"},{"key":"678_CR7","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/S0022-3476(81)80546-X","volume":"98","author":"RM Fineman","year":"1981","unstructured":"Fineman RM (1981) Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. J Pediat 98:87\u201388","journal-title":"J Pediat"},{"key":"678_CR8","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/ajmg.1320290126","volume":"29","author":"JP Fryns","year":"1988","unstructured":"Fryns JP, Van den Berghe H (1988) Acrofacial dysostosis with postaxial limb deficiency. Am J Med Genet 29:205\u2013208","journal-title":"Am J Med Genet"},{"key":"678_CR9","first-page":"45","volume":"17","author":"E Gen\u00e9e","year":"1969","unstructured":"Gen\u00e9e E (1969) Une forme extensive de dysostose mandibulo-faciale. J Genet Hum 17:45\u201352","journal-title":"J Genet Hum"},{"key":"678_CR10","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1136\/jmg.29.10.752","volume":"29","author":"A Giannotti","year":"1992","unstructured":"Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B (1992) Familial postaxial acrofacial dysostosis syndrome. J Med Genet 29:752","journal-title":"J Med Genet"},{"key":"678_CR11","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1002\/ajmg.1320310328","volume":"31","author":"H Hauss-Albert","year":"1988","unstructured":"Hauss-Albert H, Passarge E (1988) Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation. Am J Med Genet 31:701\u2013703","journal-title":"Am J Med Genet"},{"key":"678_CR12","first-page":"502","volume":"107","author":"J Henssge","year":"1970","unstructured":"Henssge J, Engelke B (1970) Die fibulo-ulnare Hypoplasie mit kugelformigen Knochelgelenk, Strahlendefecten und Synostosen. Z Orthop Grenzgeb 107:502\u2013516","journal-title":"Z Orthop Grenzgeb"},{"key":"678_CR13","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1002\/ajmg.1320330307","volume":"33","author":"M Merrer Le","year":"1989","unstructured":"Le Merrer M, Cikuli M, Ribier J, Briard ML (1989) Acrofacial dysostoses. Am J Med Genet 33:318\u2013322","journal-title":"Am J Med Genet"},{"key":"678_CR14","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1016\/S0022-3476(79)80285-1","volume":"95","author":"M Miller","year":"1979","unstructured":"Miller M, Fineman R, Smith DW (1979) Postaxial acrofacial dysostosis syndrome. J Pediatr 95:970\u2013975","journal-title":"J Pediatr"},{"key":"678_CR15","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1136\/jmg.28.10.695","volume":"28","author":"AL Ogilvy-Stuart","year":"1991","unstructured":"Ogilvy-Stuart AL, Parsons AC (1991) Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype. J Med Genet 28:695\u2013700","journal-title":"J Med Genet"},{"key":"678_CR16","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1002\/ajmg.1320270427","volume":"27","author":"JM Opitz","year":"1987","unstructured":"Opitz JM, Sticker GB (1987) The Gen\u00e9e-Wiedemann syndrome, an acrofacial dysostosis\u2014further observation. Am J Med Genet 27:971\u2013975","journal-title":"Am J Med Genet"},{"key":"678_CR17","first-page":"247","volume":"44","author":"SCS Pereira","year":"1992","unstructured":"Pereira SCS, Rocha CM, Guion-Almeida ML, Richieri-Costa A (1992) Postaxial acrofacial dysostosis: report on two patients. Am J Med Genet 44:247\u2013279","journal-title":"Am J Med Genet"},{"key":"678_CR18","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/ajmg.1320250618","volume":"2","author":"JF Reynolds","year":"1986","unstructured":"Reynolds JF, Webb MJ, Opitz JM (1986) A new autosomal dominant acrofacial dysostosis syndrome. Am J Med Genet Suppl 2:143\u2013150","journal-title":"Am J Med Genet Suppl"},{"key":"678_CR19","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/ajmg.1320370232","volume":"37","author":"M Robinow","year":"1990","unstructured":"Robinow M, Chen H (1990) Gen\u00e9e-Wiedemann syndrome in a family. Am J Med Genet 37:293","journal-title":"Am J Med Genet"},{"key":"678_CR21","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/ajmg.1320350409","volume":"35","author":"JI Rodr\u00edguez","year":"1990","unstructured":"Rodr\u00edguez JI, Palacios J (1990) Severe postaxial acrofacial dysostosis: an anatomic and angiographic study. Am J Med Genet 35:490\u2013492","journal-title":"Am J Med Genet"},{"key":"678_CR20","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1002\/ajmg.1320350408","volume":"35","author":"JI Rodr\u00edguez","year":"1990","unstructured":"Rodr\u00edguez JI, Palacios J, Urioste M (1990) New acrofacial dysostosis syndrome in 3 sibs. Am J Med Genet 35:484\u2013489","journal-title":"Am J Med Genet"},{"key":"678_CR22","first-page":"181","volume":"185","author":"HR Wiedemann","year":"1973","unstructured":"Wiedemann HR (1973) Missbildungs-Retardierungs-Syndrome mit Fehlen des Strahls an Handen und Fussen, Gaumenspalte, dysplastischen Ohren und Augenliedern und radioulnarer Synostose. Klin Pediatr 185:181\u2013186","journal-title":"Klin Pediatr"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-008-0678-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-008-0678-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-008-0678-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T22:25:59Z","timestamp":1559082359000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-008-0678-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,20]]},"references-count":22,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["678"],"URL":"https:\/\/doi.org\/10.1007\/s00431-008-0678-1","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,20]]}}}