Classification of craniosynostosis;Classification des craniosténoses

Neurochirurgie

Volumn 52, Issue 2-3 C2, 2006, Pages 200-227

  Renier, D ^a   Arnaud, E ^a   Marchac, D ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; ANATOMY; BRACHYCEPHALY; CONGENITAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DISEASE CLASSIFICATION; ECHOGRAPHY; HUMAN; KARYOTYPE; PLAGIOCEPHALY; REVIEW; SUTURE;

EID: 33745100718     PISSN: 00283770     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0028-3770(06)71216-4     Document Type: Review

References (64)

1. ACQUAVIVA R, TAMIC PM, LEBASCLE J, KERDOUDI H, BERRADA A. Les craniosténoses en milieu marocain. À propos de 140 observations. Neurochirurgie 1966 ; 12 : 561-566.
2. ADES LC, MULLEY JC, SENGA IP, MORRIS LL, DAVID DJ, HAAN EA. Jackson-Weiss syndrome : clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. Am J Med Genet 1994 ; 51 : 121-130.
3. APERT E. De l'acrocéphalosyndactylie. Bull Mem Soc Med Hop Paris 1906 ; 243 : 1310-1330.
4. CAPTIER G, BIGORRE M, RAKOTOARIMANANA JL, LEBOUCQ N, MONTOYA P. Study of the morphologic variations of the scaphocephaly. Deduction for their systematisation. Ann Chir Plast Esthet 2005 ; 50 : 715-722.
5. CARPENTER G. Two sisters showing malformations of the skull and other congenital anomalies. Rep Soc Study Dis Child 1901 ; 1 : 110-118.
6. CARPENTER G. Case of acrocephaly with other congenital malformations, autopsy. Proc R Soc Med 1909 ; 2 : 199.
7. CHOTZEN F. Eine eigenartige familiare Entwicklungsstôrung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus). Monatschr Kindcrheilkd 1932 ; 55 : 97-122.
8. CHUMAS P, CINALLI G, RENIER D, ARNAUD E, MARCHAC D. Classification of previously unclassified cases of craniosynostosis. J Neurosurg 1997 ; 86 : 177-181.
9. CINALLI G, RENIER D, SEBAG G, SAINTE-ROSE C, ARNAUD E, PIERRE-KAHN A. Chronic tonsillar herniation in Crouzon's and Apert's syndromes : the role of the premature synostosis of the lambdoid suture. J Neurosurg 1995 ; 83 : 575-582.
10. COHEN MM JR. Craniofrontonasal dysplasia. Birth Defects 1979 ; 15 : 85-89.
11. COHEN MM JR. Craniosynostosis. Diagnosis, evaluation, and management. New York : Raven Press, 1986.
12. COHEN MM JR, KREIBORG S. The central nervous system in the Apert syndrome. Am J Med Genet 1990 ; 35 : 36-45.
13. COHEN MM JR, Kreiborg S. Agenesis of the corpus callosum. Its associated anomalies and syndromes with special reference to the Apert syndrome. Neurosurg Clin North Am 1991 ; 2 : 565-568.
14. COHEN MM Jr, KREIBORG S. Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 1992 ; 44 : 90-93.
15. COHEN MM JR. : Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993 ; 45 : 300-307.
16. COHEN MM JR, KREIBORG S. Skeletal abnormalities in the Apert syndrome. Am J Med Genet 1993 ; 47 : 624-632.
17. COHEN MM JR, KREIBORG S. Visceral anomalies in the Apert syndrome. Am J Med Genet 1993 ; 45 : 758-760.
18. COHEN MM JR, KREIBORG S. Unusual cranial aspects of the Apert syndrome. J Craniofac Genet Dev Biol 1994 ; 14 : 48-56.
19. COHEN MM JR, Kreiborg S. Cutaneous manifestations of Apert syndrome. Am J Med Genet 1995 ; 58 : 94-96.
20. COHEN MM JR. Lambdoid synostosis is an overdiagnosed condition. Am J Med Genet 1996 ; 61 : 98-99.
21. CROUZON O. Dysostose cranio-faciale héréditaire. Bull Soc Med Hop Paris 1912 ; 33 : 545-555.
22. DE LÉON GA, DE LÉON G, GROVER WD, ZAERI N, ALBURGER PD. Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly). Arch Neurol 1987 ; 44 : 979-982.
23. FISHMAN MA, HOGAN GR, DODGE PR. The concurrence of hydrocephalus and craniosynostosis. J Neurosurg 1971 ; 34 : 621-629.
24. FLETCHER HM. On oxycephaly. Quart J Med 1910-1911 ; 4 : 385-398.
25. GAULT D, RENIER D, MARCHAC D. Oxycephaly and rickets. Eur J Plast Surg 1989 ; 12 : 56-59.
26. GEROLD M. Frakturheilung bei einen seltenen fall kongenitaler anomalie der oberen gliedmassen. Zentrallbl Chir 1959 ; 84 : 831-834.
27. GHEITA A, ASSAAD A. Les craniosténoses en Egypte : formes cliniques et méthodes de traitement. Ann Chir Plast Esthet 1989 ; 34 : 411-416.
28. GREIG DM. Oxycephaly. Edinburgh Med J 1926 ; 33 : 199-218.
29. GUERO S, VASSIA L, RENIER D, GLORION S. Surgical management of the hand in Apert syndrome. Handchirurgie Mikrochirurgie Plastische Chirurgie 2004 ; 36 : 179-185.
30. HAYWARD R, JONES B, DUNAWAY D, EVANS R. The clinical management of craniosynostosis. London : Mac Keith Press, 2004.
31. HEMMER KM, MCALISTER WH, MARSH JL. Cervical spine anomalies in the craniosynostosis syndromes. Cleft Palate J 1987 ; 24 : 328-333.
32. HOCKSTEIN NG, MCDONALD-MCGiNN D, ZACKAI E, BARTLETT S, HUFF DS, JACOBS IN. Tracheal anomalies in Pfeiffer syndrome. Arch Otolaryngol Head Neck Surg 2004 ; 130 : 1298-1302.
33. HOLLWAY GE, PHILLIPS HA, ADES LC, HAAN EA, MULLEY JC. Localization of craniosynostosis Adelaide type to 4p16. Hum Mol Genet 1995 ; 4 : 681-683.
34. HUANG MHS, GRUSS JS, CLARREN SK, MOURADIAN WE, CUNNINGHAM ML, ROBERTS TS. et al. The differential diagnosis of posterior plagiocephaly : true lambdoid synostoses versus optional moulding. Plast Reconstr Surg 1996 ; 98 : 765-774.
35. JACKSON CE, WEISS L, REYNOLDS WA, FORMAN TF, PETERSON JA. Craniosynostosis, midface hypoplasia, and foot abnormalities : an autosomal dominant phenotype in a large Amish kindred. J Pediatr 1976 ; 88 : 963-968.
36. JOURNEAU P, LAJEUNIE E, RENIER D, SALON A, GUERO S, POULIQUEN JC. Syndactyly in Apert syndrome. Utility of a prognostic classification. Ann Chir Main Memb Super 1999 ; 18 : 13-9.
37. KREIBORG S, BARR M JR, COHEN MM JR. Cervical spine in the Apert syndrome. Am J Med Genet 1992 ; 43 : 704-708.
38. KREIBORG S, COHEN MM Jr. The oral manifestations of Apert syndrome. J Craniofac Dev Biol 1992 ; 12 : 41-48.
39. LACHERETZ M, WALBAUM R, TOURGIS C. L'acrocéphalosynankie. À propos d'une observation avec synostoses multiples. Pédiatrie 1974 ; 39 : 169-177.
40. LAJEUNIE E, CAMERON R, EL GHOUZZI V, DE PARCEVAL N, JOURNEAU P, GONZALES M, et al. Clinical variability in patients with Apert syndrome. J Neurosurg 1999 ; 90 : 443-447.
41. LAJEUNIE E, EL GHOUZZI V, LE MERRER M, MUNNICH A, BONAVENTURE J, RENIER D. Sex-related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. J Med Genet 1999 ; 36 : 9-13.
42. LAJEUNIE E, BARCIK U, THORNE JA, El GHOUZZI V, BOURGEOIS M, RENIER D. Craniosynostosis and fetal exposure to sodium valproate. J Neurosurg 2001 ; 95 : 778-782.
43. LITTLEFIELD TR, Kelly KM, Pomatto JK, Beals SP. Multiple-birth infants at higher risk for development of deformational plagiocéphalie. Pediatrics 1999 ; 103 : 565-569.
44. MEHRARA BJ, MCKOOL RJ, MCCARTHY JG, GITTES GK, LONGAKER MT. Immunolocalization of basic fibroblast growth factor and fibroblast growth factor receptor-1 and receptor-2 in rat cranial sutures. Plast Reconstr Surg 1998 ; 102 :1805-1817.
45. MEHRARA BJ, MOST D, CHANG J, BRESNICK S, TURK A, SCHENDEL SA, et al. Basic fibroblast growth factor and TGF-beta1 expression in the developing dura mater correlates with calvarial bone formation. Plast Reconstr Surg 1999 ; 104 : 435-444.
46. MENARD RM, DAVID DJ. Unilateral lambdoid synostoses : morphological characteristics. J Craniofac Surg 1998 ; 3 : 240-246.
47. MEYERS GA, ORLOW SJ, MUNRO IR, PRZYLEPA KA, JABS EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995 ; 11 : 462-463.
48. MOORE MH, LODGE ML, CLARK BE. Spinal anomalies in Pfeiffer syndrome. Cleft Palate-Craniofac J 1995 ; 32 : 251-254.
49. MUENKE M, GRIPP KW, MCDONALD-MCGINN DM, GAUDENZ K, WHITAKER LA, BARTLETT SP, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997 ; 60 : 555-564.
50. OPITZ JM, JOHNSON JC, MCCREADIE SR, SMITH DW : The C syndrome of multiple congenital anomalies. Birth Defects 1969 ; 5 : 161-166.
51. PFEIFFER RA. Dominant erbliche Akrocephalosyndaktylie. Z Kinderheilk 1964 ; 90 : 301-320.
52. RAJENDERKUMAR D, BAMIOU D, SIRIMANNA T. Management of hearing loss in Apert syndrome. J Laryngol Otol 2005 ; 119 : 385-390.
53. REARDON W, WINTER RM. Saethre-Chotzen syndrome. J Med Genet 1994 ; 31 : 393-396.
54. REKATE HL. Occipital plagiocephaly : a critical review of the literature J Neurosurg 1998 ; 89 : 24-30.
55. RENIER D, ARNAUD E, CINALLI G, MARCHAC D, BRUNET L, SEBAG G, et al. Pronostic mental du syndrome d'Apert. Arch Pediatr 1996 ; 3 : 752-760.
56. RENIER D, ARNAUD E, CINALLI G, SEBAG G, ZERAH M, MARCHAC D. Prognosis for mental function in Apert's syndrome. J. Neurosurg 1996 ; 85 : 66-72.
57. ROBINSON DC, HALL R, MUNRO DS. Graves'disease, an unusual complication : raised intracranial pressure due to premature fusion of skull sutures. Arch Dis Child 1969 : 44 : 252-257.
58. ROBINSON FK, POWERS NG, DUNKLEE P, SHERMAN S, JONES KL. The Antley-Bixler syndrome. J Pediatr 1982 ; 101 : 201-205.
59. SAAL HM, BULAS DI, ALLEN JF, VEZINA LG, WALTON D, ROSENBAUM KN. Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Golberg syndrome) and cloverleaf skull. Am J Med Genet 1995 ; 57 : 573-578.
60. SAETHRE H. Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit und Symptomologie). Dtsh Z Nervenkeilkd 1931 ; 117 : 533-555.
61. TEMTAMY SA. Carpenter's syndrome : acrocephalosyndactyly. An autosomal recessive syndrome. J Pediatr 1966 ; 69 : 111-120.
62. THOMPSON DNP, SLANEY SF, HALL CM, SHAW D, JONES BM, HAYWARD RD. Congenital cervical spinal fusion : a study in Apert syndrome. Pediatr Neurosurg 1996 ; 25 : 20-27.
63. VIRCHOW R. Über den cretinismus, namentlich in Franken une über pathologishe scadelformen. Verh Physikal Med Ges Würzburg 1881 ; 2 : 230.
64. WARMAN ML, MULLIKEN JB, HAYWARD PG, MULLER U. Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet 1993 ; 46 : 444-449.