Lambdoidal synostosis in dizygotic twins with a family history of an undiagnosed connective tissue disorder
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  • 作者:Caroline C. Watson (1)
    Christoph J. Griessenauer (2)
    R. Shane Tubbs (1) (3)
    James M. Johnston (1)
  • 关键词:Lambdoid ; Craniosynostosis ; Familial
  • 刊名:Child's Nervous System
  • 出版年:2014
  • 出版时间:June 2014
  • 年:2014
  • 卷:30
  • 期:6
  • 页码:1117-1120
  • 全文大小:
  • 参考文献:1. Bradley JP, Shahinian H, Levine JP, Rowe N, Longaker MT (2000) Growth restriction of cranial sutures in the fetal lamb causes deformational changes, not craniosynostosis. Plast Reconstr Surg 105:2416-423 CrossRef
    2. Cohen MM Jr (1996) Lambdoid synostosis is an overdiagnosed condition. Am J Med Genet 61:98-9 mg.1320610109" target="_blank" title="It opens in new window">CrossRef
    3. Cohen MM Jr (2000) Craniofacial disorders caused by mutations in homeobox genes MSX1 and MSX2. J Craniofac Genet Dev Biol 20:19-5
    4. Cruysberg JR, van Ravenswaaij-Arts CM, Pinckers A, Roddi R, Brunner HG (1999) Craniosynostosis associated with ectopia lentis in monozygotic twin sisters. Am J Med Genet 82:201-05 CrossRef
    5. Dong J, Bu J, Du W, Li Y, Jia Y, Li J, Meng X, Yuan M, Peng X, Zhou A, Wang L (2012) A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family. Mol Vis 18:81-6
    6. Franceschini P, Licata D, Guala A, Di Cara G, Signorile F, Franceschini D, Genitori L, Restagno G (1998) Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. Am J Med Genet 80:303-08 CrossRef
    7. Fryburg JS, Hwang V, Lin KY (1995) Recurrent lambdoid synostosis within two families. Am J Med Genet 58:262-66 mg.1320580313" target="_blank" title="It opens in new window">CrossRef
    8. Furlong J, Kurczynski TW, Hennessy JR (1987) New Marfanoid syndrome with craniosynostosis. Am J Med Genet 26:599-04 mg.1320260314" target="_blank" title="It opens in new window">CrossRef
    9. Graham JM Jr, Badura RJ, Smith DW (1980) Coronal craniostenosis: fetal head constraint as one possible cause. Pediatrics 65:995-99
    10. Graham JM Jr, Smith DW (1980) Metopic craniostenosis as a consequence of fetal head constraint: two interesting experiments of nature. Pediatrics 65:1000-002
    11. Huang MH, Mouradian WE, Cohen SR, Gruss JS (1998) The differential diagnosis of abnormal head shapes: separating craniosynostosis from positional deformities and normal variants. Cleft palate-craniofac J Off Publ Am Cleft Palate-Craniofac Assoc 35:204-11 CrossRef
    12. Kadlub N, Persing JA, da Silva Freitas R, Shin JH (2008) Familial lambdoid craniosynostosis between father and son. J Craniofac Surg 19:850-54 CrossRef
    13. Machin GA (1992) Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. Am J Med Genet 44:842-43 mg.1320440628" target="_blank" title="It opens in new window">CrossRef
    14. Muakkassa KF, Hoffman HJ, Hinton DR, Hendrick EB, Humphreys RP, Ash J (1984) Lambdoid synostosis. Part 2: review of cases managed at The Hospital for Sick Children, 1972-982. J Neurosurg 61:340-47 CrossRef
    15. Mulliken JB, Steinberger D, Kunze S, Muller U (1999) Molecular diagnosis of bilateral coronal synostosis. Plast Reconstr Surg 104:1603-615 CrossRef
    16. Rekate HL (1998) Occipital plagiocephaly: a critical review of the literature. J Neurosurg 89:24-0 CrossRef
    17. Rodrigues VJ, Elsayed S, Loeys BL, Dietz HC, Yousem DM (2009) Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J neuroradiol 30:1614-619 CrossRef
    18. Rogers GF, Edwards PD, Robson CD, Mulliken JB (2005) Concordant contralateral lambdoidal synostosis in dizygotic twins. J Craniofac Surg 16:435-39 CrossRef
    19. Shillito J Jr, Matson DD (1968) Craniosynostosis: a review of 519 surgical patients. Pediatrics 41:829-53
  • 作者单位:Caroline C. Watson (1)
    Christoph J. Griessenauer (2)
    R. Shane Tubbs (1) (3)
    James M. Johnston (1)

    1. Pediatric Neurosurgery, Children’s Hospital of Alabama, Birmingham, AL, 35233, USA
    2. Division of Neurosurgery, Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA
    3. Department of Anatomical Sciences, St. George’s University, St. George, Grenada
  • ISSN:1433-0350
文摘
Introduction Unilateral lambdoidal craniosynostosis is a rare disorder that occurs in approximately 3?% of all craniosynostosis phenotypes and only 0.03?% of one million live births. It is even more unusual for this type of synostosis to occur in siblings with only two other cases reported in the literature. Case report We report a set of full-term dizygotic twins born with lambdoidal synostosis and a family history of connective tissue and cardiovascular anomalies. One of the twins also had concomitant bicoronal craniosynostosis. Conclusion True familial lambdoidal synostosis is exceedingly rare. The present cases in dizygotic twins occurred in a family with a significant history of connective tissue disease suggesting a possible association.

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