{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T01:52:50Z","timestamp":1784425970132,"version":"3.55.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,11,9]],"date-time":"2012-11-09T00:00:00Z","timestamp":1352419200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the <jats:italic>SH3PXD2B<\/jats:italic> gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the <jats:italic>SH3PXD2B<\/jats:italic> gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-13-104","type":"journal-article","created":{"date-parts":[[2012,11,9]],"date-time":"2012-11-09T13:14:11Z","timestamp":1352466851000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure"],"prefix":"10.1186","volume":"13","author":[{"given":"Charlotte L","family":"Bendon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aim\u00e9e L","family":"Fenwick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane A","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A","family":"Wall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew OM","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,11,9]]},"reference":[{"issue":"2","key":"1010_CR1","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1002\/ajmg.a.30244","volume":"131","author":"SM Maas","year":"2004","unstructured":"Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC: Further delineation of Frank-ter Haar Syndrome. Am J Med Genet A. 2004, 131 (2): 127-133.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"1010_CR2","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1002\/ajmg.1320130418","volume":"13","author":"B ter Haar","year":"1982","unstructured":"ter Haar B, Hamel B, Hendriks J, de Jager J: Melnick-Needles syndrome: indication for an autosomal recessive form. Am J Med Genet. 1982, 13 (4): 469-477. 10.1002\/ajmg.1320130418.","journal-title":"Am J Med Genet"},{"issue":"3","key":"1010_CR3","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1002\/ajmg.1320560320","volume":"56","author":"BC Hamel","year":"1995","unstructured":"Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG: Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet. 1995, 56 (3): 312-316. 10.1002\/ajmg.1320560320.","journal-title":"Am J Med Genet"},{"issue":"1","key":"1010_CR4","doi-asserted-by":"publisher","first-page":"39","DOI":"10.2214\/ajr.97.1.39","volume":"97","author":"JC Melnick","year":"1966","unstructured":"Melnick JC, Needles CF: An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations. Am J Roentgenol Radium Ther Nucl Med. 1966, 97 (1): 39-48.","journal-title":"Am J Roentgenol Radium Ther Nucl Med"},{"issue":"3","key":"1010_CR5","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<267::AID-AJMG10>3.0.CO;2-J","volume":"70","author":"R Wallerstein","year":"1997","unstructured":"Wallerstein R, Scott CI, Nicholson L: Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome. Am J Med Genet. 1997, 70 (3): 267-272. 10.1002\/(SICI)1096-8628(19970613)70:3<267::AID-AJMG10>3.0.CO;2-J.","journal-title":"Am J Med Genet"},{"issue":"2","key":"1010_CR6","first-page":"67","volume":"21","author":"Y Frank","year":"1973","unstructured":"Frank Y, Ziprkowski M, Romano A, Stein R, Katznelson MB, Cohen B, Goodman RM: Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?. J Genet Hum. 1973, 21 (2): 67-72.","journal-title":"J Genet Hum"},{"issue":"2","key":"1010_CR7","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/j.ajhg.2010.01.009","volume":"86","author":"Z Iqbal","year":"2010","unstructured":"Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Mill\u00e1n JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H: Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet. 2010, 86 (2): 254-261. 10.1016\/j.ajhg.2010.01.009.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"1010_CR8","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1111\/j.1469-7580.2005.00475.x","volume":"207","author":"GM Morriss-Kay","year":"2005","unstructured":"Morriss-Kay GM, Wilkie AO: Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat. 2005, 207 (5): 637-653. 10.1111\/j.1469-7580.2005.00475.x.","journal-title":"J Anat"},{"issue":"2","key":"1010_CR9","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1093\/ejo\/25.2.139","volume":"25","author":"DP Rice","year":"2003","unstructured":"Rice DP, Rice R, Thesleff I: Molecular mechanisms in calvarial bone and suture development, and their relation to craniosynostosis. Eur J Orthod. 2003, 25 (2): 139-148. 10.1093\/ejo\/25.2.139.","journal-title":"Eur J Orthod"},{"issue":"4","key":"1010_CR10","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1038\/ejhg.2010.235","volume":"19","author":"D Johnson","year":"2011","unstructured":"Johnson D, Wilkie AO: Craniosynostosis. Eur J Hum Genet. 2011, 19 (4): 369-376. 10.1038\/ejhg.2010.235.","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"1010_CR11","doi-asserted-by":"publisher","first-page":"370","DOI":"10.3171\/jns.1982.57.3.0370","volume":"57","author":"D Renier","year":"1982","unstructured":"Renier D, Sainte-Rose C, Marchac D, Hirsch JF: Intracranial pressure in craniostenosis. J Neurosurg. 1982, 57 (3): 370-377. 10.3171\/jns.1982.57.3.0370.","journal-title":"J Neurosurg"},{"issue":"3","key":"1010_CR12","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/01.mcd.0000077564.66911.0a","volume":"12","author":"A AlKaissi","year":"2003","unstructured":"AlKaissi A, Hammou A, Ghachem MB, Nacib MN, Chehida FB, Karoui H, Baraitser M: Siblings with glaucoma, mental retardation and short stature. Clin Dysmorphol. 2003, 12 (3): 191-194.","journal-title":"Clin Dysmorphol"},{"issue":"5","key":"1010_CR13","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1111\/j.1540-8191.2006.00306.x","volume":"21","author":"S Barlas","year":"2006","unstructured":"Barlas S, Ugurlucan M, Ayhan YI, Kalangos A, Barlas C: Mitral valve repair in a patient with Ter Haar Syndrome. J Card Surg. 2006, 21 (5): 488-491. 10.1111\/j.1540-8191.2006.00306.x.","journal-title":"J Card Surg"},{"issue":"4","key":"1010_CR14","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.ejmg.2009.03.005","volume":"52","author":"M Dundar","year":"2009","unstructured":"Dundar M, Saatci C, Tasdemir S, Akcakus M, Caqlayan AO, Ozkul Y: Frank-ter Haar syndrome with unusual clinical features. Eur J Med Genet. 2009, 52 (4): 247-249. 10.1016\/j.ejmg.2009.03.005.","journal-title":"Eur J Med Genet"},{"issue":"8","key":"1010_CR15","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1007\/s12098-011-0599-2","volume":"79","author":"P Femitha","year":"2012","unstructured":"Femitha P, Joy R, Gane BD, Adhisivam B, Bhat BV: Frank -Ter Haar Syndrome in a Newborn. Indian J Pediatr. 2012, 79 (8): 1091-1093. 10.1007\/s12098-011-0599-2.","journal-title":"Indian J Pediatr"},{"issue":"5","key":"1010_CR16","doi-asserted-by":"publisher","first-page":"2679","DOI":"10.1167\/iovs.10-5993","volume":"52","author":"M Mao","year":"2011","unstructured":"Mao M, Hedberg-Buenz A, Koehn D, John SW, Anderson MG: Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. Invest Ophthalmol Vis Sci. 2011, 52 (5): 2679-2688. 10.1167\/iovs.10-5993.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"1010_CR17","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1038\/75514","volume":"25","author":"DF Gudbjartsson","year":"2000","unstructured":"Gudbjartsson DF, Jonasson K, Frigge ML, Kong A: Allegro, a new computer program for multipoint linkage analysis. Nat Genet. 2000, 25 (1): 12-13. 10.1038\/75514.","journal-title":"Nat Genet"},{"issue":"3","key":"1010_CR18","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<282::AID-AJMG15>3.0.CO;2-G","volume":"62","author":"E Lajeunie","year":"1996","unstructured":"Lajeunie E, Le Merrer M, Bonaiti-Pellie C, Marchac D, Renier D: Genetic study of scaphocephaly. Am J Med Genet. 1996, 62 (3): 282-285. 10.1002\/(SICI)1096-8628(19960329)62:3<282::AID-AJMG15>3.0.CO;2-G.","journal-title":"Am J Med Genet"},{"issue":"7","key":"1010_CR19","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1002\/ajmg.a.31630","volume":"143","author":"ML Seto","year":"2007","unstructured":"Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, Patel PK, Burton BK, Kane AA, Smyth MD, Hooper R, Ellenbogen RG, Stevenson K, Speltz ML, Cunningham ML: Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A. 2007, 143 (7): 678-686.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"1010_CR20","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1097\/PRS.0b013e3181774240","volume":"122","author":"DD Marucci","year":"2008","unstructured":"Marucci DD, Johnston CP, Anslow P, Jayamohan J, Richards PG, Wilkie AO, Wall SA: Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis. Plast Reconstr Surg. 2008, 122 (1): 217-224. 10.1097\/PRS.0b013e3181774240.","journal-title":"Plast Reconstr Surg"},{"issue":"3","key":"1010_CR21","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1597\/11-185","volume":"49","author":"VP Sharma","year":"2012","unstructured":"Sharma VP, Wall SA, Lord H, Lester T, Wilkie A: Atypical Crouzon Syndrome with a Novel Cys62Arg Mutation in FGFR2 Presenting with Sagittal Synostosis. Cleft Palate Craniofac J. 2012, 49 (3): 373-377. 10.1597\/11-185.","journal-title":"Cleft Palate Craniofac J"},{"issue":"2","key":"1010_CR22","doi-asserted-by":"publisher","first-page":"e391","DOI":"10.1542\/peds.2009-3491","volume":"126","author":"AO Wilkie","year":"2010","unstructured":"Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA: Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics. 2010, 126 (2): e391-e400. 10.1542\/peds.2009-3491.","journal-title":"Pediatrics"},{"issue":"7","key":"1010_CR23","doi-asserted-by":"publisher","first-page":"2338","DOI":"10.1097\/00006534-200206000-00028","volume":"109","author":"RE Kirschner","year":"2002","unstructured":"Kirschner RE, Gannon FH, Xu J, Wang J, Karmacharya J, Bartlett SP, Whitaker LA: Craniosynostosis and altered patterns of fetal TGF-beta expression induced by intrauterine constraint. Plast Reconstr Surg. 2002, 109 (7): 2338-2346. 10.1097\/00006534-200206000-00028. discussion 2347\u201354","journal-title":"Plast Reconstr Surg"},{"key":"1010_CR24","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1111\/j.1469-8749.2007.00935.x","volume":"49","author":"C Wiegand","year":"2007","unstructured":"Wiegand C, Richards P: Measurement of intracranial pressure in children: A critical review of current methods. Dev Med Child Neurol. 2007, 49: 935-941. 10.1111\/j.1469-8749.2007.00935.x.","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"1010_CR25","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1097\/PRS.0b013e3181e09533","volume":"126","author":"DG Morritt","year":"2010","unstructured":"Morritt DG, Yeh FJ, Wall SA, Richards PG, Jayamohan J, Johnson D: Management of isolated sagittal synostosis in the absence of scaphocephaly: a series of eight cases. Plast Reconstr Surg. 2010, 126 (2): 572-580. 10.1097\/PRS.0b013e3181e09533.","journal-title":"Plast Reconstr Surg"},{"issue":"8","key":"1010_CR26","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1007\/s00335-009-9210-9","volume":"20","author":"M Mao","year":"2009","unstructured":"Mao M, Thedens DR, Chang B, Harris BS, Zheng QY, Johnson KR, Donahue LR, Anderson MG: The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome. 2009, 20 (8): 462-475. 10.1007\/s00335-009-9210-9.","journal-title":"Mamm Genome"},{"issue":"7","key":"1010_CR27","doi-asserted-by":"publisher","first-page":"e22622","DOI":"10.1371\/journal.pone.0022622","volume":"6","author":"B Yang","year":"2011","unstructured":"Yang B, Tian C, Zhang ZG, Han FC, Azem R, Yu H, Zheng Y, Jin G, Arnold JE, Zheng QY: Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media. PLoS One. 2011, 6 (7): e22622-10.1371\/journal.pone.0022622.","journal-title":"PLoS One"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-13-104.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-13-104\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-13-104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-13-104.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T20:51:21Z","timestamp":1630529481000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-13-104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,9]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["1010"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-13-104","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,9]]},"assertion":[{"value":"19 May 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"104"}}