Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Springer Science and Business Media LLC - Tập 13 - Trang 1-8 - 2012
Charlotte L Bendon1, Aimée L Fenwick2, Jane A Hurst3,4, Gudrun Nürnberg5, Peter Nürnberg5,6,7, Steven A Wall1, Andrew OM Wilkie1,2,3, David Johnson1
1Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK
2Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
3Department of Clinical Genetics, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK
4Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, UK
5Cologne Center for Genomics, University of Cologne, Cologne, Germany;
6Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
7Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany

Tóm tắt

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 SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome. 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 SH3PXD2B gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure. 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.

Tài liệu tham khảo

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. 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. 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. 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. 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. 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. 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, Millán 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. 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. 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. Johnson D, Wilkie AO: Craniosynostosis. Eur J Hum Genet. 2011, 19 (4): 369-376. 10.1038/ejhg.2010.235. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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 2347–54 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. 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. 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. 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. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/13/104/prepub
Thông tin
Thông tin xuất bản

Springer Science and Business Media LLC

Tập 13

1-8

Thông tin tác giả