{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T01:11:29Z","timestamp":1783905089660,"version":"3.55.0"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"3","license":[{"start":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T00:00:00Z","timestamp":1512086400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture. Cutaneous syndactyly was present at both hands (fingers II-V), with almost complete fusion of the second, third and fourth fingers. Distal phalanges of the thumbs were broad as well as distal hallux. There was cutaneous syndactyly of the feet. Mental development at the age of 11 months was normal.<\/jats:p>\n                  <jats:p>Apert syndrome is a sporadic disorder. Rarely, inheritance is autosomal dominant. Appropriate management includes surgical treatment of the syndactylies, follow up of the eventual airway compromise and hearing difficulties. This is a report of a patient identified as a newborn.<\/jats:p>","DOI":"10.2478\/prilozi-2018-0016","type":"journal-article","created":{"date-parts":[[2018,4,18]],"date-time":"2018-04-18T18:17:53Z","timestamp":1524075473000},"page":"153-155","source":"Crossref","is-referenced-by-count":0,"title":["Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn"],"prefix":"10.2478","volume":"38","author":[{"given":"Orhideja","family":"Stomnaroska","sequence":"first","affiliation":[{"name":"Medical Faculty Skopje , \u201cSs. Cyril and Methodius\u201d University , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dragan","family":"Danilovski","sequence":"additional","affiliation":[{"name":"Medical Faculty Skopje , \u201cSs. Cyril and Methodius\u201d University , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanja","family":"Ivanovska","sequence":"additional","affiliation":[{"name":"Medical Faculty Skopje , \u201cSs. Cyril and Methodius\u201d University , Republic of Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,4,16]]},"reference":[{"key":"2026071212052016614_j_prilozi-2018-0016_ref_001_w2aab3b7c16b1b6b1ab1ab1Aa","unstructured":"1. Apert ME. De l\u2019acrocephalosyndactylie. Bull. Mem. Soc Med Hop Paris 1906; 23: 1310-1330."},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_002_w2aab3b7c16b1b6b1ab1ab2Aa","doi-asserted-by":"crossref","unstructured":"2. Kreiborg A, Barr M Jr, Cohen MM Jr. Cervical spine in the Apert syndrome. Am J Med Genet 1992; 43: 704-708.10.1002\/ajmg.13204304111621762","DOI":"10.1002\/ajmg.1320430411"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_003_w2aab3b7c16b1b6b1ab1ab3Aa","doi-asserted-by":"crossref","unstructured":"3. Wilkie AOM, Slaney S F, Oldridge M, Poole M D, Ashworth G J, Hockley A D, Hayward RD, David DJ, Pulleyn L J, Rutland P, Malcolm S, Winter R M, Reardon W. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 1995; 9: 165-172.10.1038\/ng0295-1657719344","DOI":"10.1038\/ng0295-165"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_004_w2aab3b7c16b1b6b1ab1ab4Aa","doi-asserted-by":"crossref","unstructured":"4. Patton MA, Goodship J, Hayward R, Lansdown R. Intellectual development in Apert\u2019s syndrome: a long term follow up of 29 patients. J Med Genet. 1988;25: 164-167.10.1136\/jmg.25.3.16410154803351902","DOI":"10.1136\/jmg.25.3.164"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_005_w2aab3b7c16b1b6b1ab1ab5Aa","doi-asserted-by":"crossref","unstructured":"5. Cohen M M Jr, Kreiborg S. The central nervous system in the Apert syndrome. Am J Med Genet 1990;35: 36-45.10.1002\/ajmg.13203501082405668","DOI":"10.1002\/ajmg.1320350108"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_006_w2aab3b7c16b1b6b1ab1ab6Aa","doi-asserted-by":"crossref","unstructured":"6. Reiner D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D. Prognosis for mental function in Apert\u2019s syndrome. J Neurosurg 1996;85: 66-72.10.3171\/jns.1996.85.1.00668683284","DOI":"10.3171\/jns.1996.85.1.0066"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_007_w2aab3b7c16b1b6b1ab1ab7Aa","doi-asserted-by":"crossref","unstructured":"7. Pelz L, Unger K, Radke M. Esophageal stenosis in acrocephalosyndactyly type I. (Letter) Am J Med Genet 1994; 53: 91 only.10.1002\/ajmg.13205301237802047","DOI":"10.1002\/ajmg.1320530123"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_008_w2aab3b7c16b1b6b1ab1ab8Aa","doi-asserted-by":"crossref","unstructured":"8. Khong J J, Anderson P, Gray TL, Hammerton M, Selva D, David D. Ophthalmic findings in Apert syndrome prior to craniofacial surgery. Am J Ophthal. 2006; 142: 328-330.10.1016\/j.ajo.2006.02.04616876521","DOI":"10.1016\/j.ajo.2006.02.046"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_009_w2aab3b7c16b1b6b1ab1ab9Aa","unstructured":"9. Roberts KB, Hall JG. Apert\u2019s acrocephalosyndactyly in mother and daughter: cleft palate in the mother. Birth Defects Orig Art Ser 1971; VII(7): 262-264."},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_010_w2aab3b7c16b1b6b1ab1ac10Aa","doi-asserted-by":"crossref","unstructured":"10. Allanson J E. Germinal mosaicism in Apert syndrome. Clin Genet 1986;29: 429-433.10.1111\/j.1399-0004.1986.tb00516.x3742849","DOI":"10.1111\/j.1399-0004.1986.tb00516.x"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_011_w2aab3b7c16b1b6b1ab1ac11Aa","doi-asserted-by":"crossref","unstructured":"11. Blank C E. Apert\u2019s syndrome (a type of acrocephalosyndactyly): observations on a British series of thirty-nine cases. Ann Hum Genet 1960;24: 151-164.10.1111\/j.1469-1809.1959.tb01728.x13801313","DOI":"10.1111\/j.1469-1809.1959.tb01728.x"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_012_w2aab3b7c16b1b6b1ab1ac12Aa","doi-asserted-by":"crossref","unstructured":"12. Oldridge M, Lunt PW, Zackai EH, McDonald-Mc-Ginn DM, Muenke M, Moloney DM, Twigg SRF, Heath J K, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie, AO M. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Molec Genet 1997;6: 137-143.10.1093\/hmg\/6.1.1379002682","DOI":"10.1093\/hmg\/6.1.137"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_013_w2aab3b7c16b1b6b1ab1ac13Aa","doi-asserted-by":"crossref","unstructured":"13. Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, Delezoide AL, Bonaventure J, Le Merrer M, Renier D. Clinical variability in patients with Apert\u2019s syndrome. J Neurosurg 1999;90: 443-447.10.3171\/jns.1999.90.3.0443","DOI":"10.3171\/jns.1999.90.3.0443"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_014_w2aab3b7c16b1b6b1ab1ac14Aa","doi-asserted-by":"crossref","unstructured":"14. von Gernet S, Golla A, Ehrenfels Y, Schuffenhauer S, Fairley J D. Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. Clin Genet 2000; 57: 137-139.10.1034\/j.1399-0004.2000.570208.x","DOI":"10.1034\/j.1399-0004.2000.570208.x"},{"key":"2026071212052016614_j_prilozi-2018-0016_ref_015_w2aab3b7c16b1b6b1ab1ac15Aa","doi-asserted-by":"crossref","unstructured":"15. Tolarova MM, Harris JA, Ordway DE, Vargervik K. Birth prevalence, mutation rate, sex ratio, parents\u2019 age, and ethnicity in Apert syndrome. 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