Crouzon with acanthosis nigricans. Further delineation of the syndrome

Clinical Genetics

Volumn 72, Issue 5, 2007, Pages 405-410

  Arnaud Lopez L ^a   Fragoso, J ^a   Mantilla Capacho, J ^a   Barros Núñez, Patricio ^a,b  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b NONE   (Mexico)

Author keywords

Acanthosis nigricans; CAN syndrome; Craniosynostosis; Crouzon syndrome; Crouzonodermoskeletal; FGFR3

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; MEMBRANE PROTEIN;

ACANTHOMA; ACANTHOSIS NIGRICANS; ADOLESCENT; ARTICLE; BRACHYCEPHALY; CASE REPORT; CHIARI FROMMEL SYNDROME; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; DIFFERENTIAL DIAGNOSIS; EXOPHTHALMOS; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HYDROCEPHALUS; HYPERTELORISM; HYPOCHONDROPLASIA; HYPOPIGMENTATION; HYPOPLASTIC LEFT HEART SYNDROME; KIDNEY FAILURE; MELANOCYTIC NEVUS; MEMBRANOUS GLOMERULONEPHRITIS; MENTAL DEFICIENCY; MOUTH MALFORMATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION; THORAX RADIOGRAPHY; VERTEBRA MALFORMATION;

ACANTHOSIS NIGRICANS; ADOLESCENT; CHILD, PRESCHOOL; CRANIOFACIAL DYSOSTOSIS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; POINT MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SYNDROME;

EID: 35348924968     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00884.x     Document Type: Article

References (34)

1. Murdoch-Kinch CA, Bixler D, Ward RE. Cephalometric analysis of families with dominantly inherited Crouzon syndrome: An aid to diagnosis in family studies. Am J Med Genet 1998: 77: 405-411.
2. Lapunzina P, Fernandez MC, Varela Junquera JM, Arberas C, Tello AM, Gracia Bouthelier R. Crouzon's syndrome with acanthosis nigricans. An Esp Pediatr 2002: 56: 342-346.
3. Torley D, Bellus GA, Munro CS. Genes, growth factors and acanthosis nigricans. Br J Dermatol 2002: 147: 1096-1101.
4. 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: 462-464.
5. Cohen MM Jr. Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. Am J Med Genet 1999: 84: 74.
6. Suslak L, Glista B, Gertzman GB, Lieberman L, Schwartz RA, Desposito F. Crouzon syndrome with periapical cemental dysplasia and acanthosis nigricans: The pleiotropic effect of a single gene? Birth Defects 1985: 21: 127-134.
7. Everett ET, Hartsfield KG Jr, Murdoch-Kinch CA. FGFR3 mutation in Crouzon syndrome with acanthosis nigricans and abnormal MCPP analysis. Am J Hum Genet 1996: 59: 257.
8. Curth HO. The necessity of distinguishing four types of acanthosis nigricans. In: Jadassohn W, Schirren CG, eds. Congressus internationalis dermatologiae Munich, Vol. 1. Berlin: Springer-Verlag, 1968: 557-558.
9. Witkowski JA, Parish LC. A new face for Crouzon's syndrome. Int J Dermatol 1976: 15: 444-445.
10. Reddy BSN, Garg BR, Padiyar NV, Krishnaram AS. An unusual association of acanthosis nigricans and Crouzon's disease: A case report. J Dermatol 1985: 12: 85-90.
11. Breitbart AS, Eaton C, McCarthy JG. Crouzon's syndrome associated with acanthosis nigricans: Ramifications for the craniofacial surgeon. Ann Plast Surg 1989: 22: 310-315.
12. Koizumi H, Tomoyori T, Sato KC, Ohkawara A. An association of acanthosis nigricans and Crouzon syndrome. J Dermatol 1992: 19: 122-126.
13. Gines E, Rodriguez-Pichardo A, Jorquera E, Moreno JC, Camacho F. Crouzon disease with acanthosis nigricans and melanocytic nevi. Pediatr Dermatol 1996: 13: 18-21.
14. Martínez-Pérez D, Vander Woude DL, Barnes PD, Scott RM, Mulliken JB. Jugular foraminal stenosis in Crouzon syndrome. Pediatr Neurosurg 1996: 25: 252-255.
15. Superti-Furga A, Locher M, Eich G et al. A boy with craniosynostosis, choanal atresia, acanthosis nigricans, hydrocephalus and hydromyelia, stenosis of foramen magnum and vertebral canal, and multiple desmo-osteoblastomas of the jaws: Pleiotropic effects of the FGFR3 A391G mutation causing a distinct craniofacial-skeletal ectodermal dysplasia. Am J Hum Genet 1996: 59: A287.
16. Wilkes D, Rutland P, Pulleyn LJ et al. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet 1996: 33: 744-748.
17. Mulliken JB, Steinberger D, Kunze S, Muller U. Molecular diagnosis of bilateral coronal synostosis. Plast Reconstr Surg 1999: 104: 1603-1615.
18. Nagase T, Nagase M, Hirose S, Ohmori K. Crouzon syndrome with acanthosis nigricans: Case report and mutational analysis. Cleft Palate Craniofac J 2000: 37: 78-82.
19. Robson CD, Mulliken JB, Robertson RL et al. Prominent basal emissary foramina in syndromic craniosynostosis: Correlation with phenotypic and molecular diagnoses. AJNR Am J Neuroradiol 2000: 21: 1707-1717.
20. Schweitzer DN, Graham JM Jr, Lachman RS et al. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet 2001: 98: 75-91.
21. Kreiborg S. Crouzon syndrome. A clinical and roentgencephalometric study. Scand J Plast Reconstr Surg Suppl 1981: 18: 1-198.
22. 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: 637-653.
23. Reardon W, Wilkes D, Rutland P et al. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet 1997: 34: 632-636.
24. Shprintzen RJ. Speech and language disorders in syndromes of craniosynostosis. In: Cohen MM Jr, MacLean RE, eds. Craniosynostosis: diagnosis, evaluation and management. New York, NY: Oxford, 2000: 197-203.
25. Hoffman HI, Hendrick EB. Early neurosurgical repair in craniosynostosis craniofacial dysmorphism. J Neurosurg 1979: 51: 796-803.
26. Noetzel MJ, Marsh JL, Palkes H, Gado M. Hydrocephalus and mental retardation in craniosynostosis. J Pediatr 1985: 107: 885-892.
27. Golabi M, Edwards MS, Ousterhout DK. Craniosynostosis and hydrocephalus. Neurosurgery 1987: 21: 63-67.
28. Collmann H, Sorensen N, Krauss J, Muhling J. Hydrocephalus in craniosynostosis. Childs Nerv Syst 1988: 4: 279-285.
29. Hanieh A, Sheen R, David DJ. Hydrocephalus in Crouzon's syndrome. Childs Nerv Syst 1989: 5: 188-189.
30. 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 premature synostosis of the lambdoid suture. J Neurosurg 1995: 83: 575-582.
31. Renier D, Lajeunie E, Arnaud E, Marchac D. Management of craniosynostoses. Childs Nerv Syst 2000: 16: 645-658.
32. Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A. Chiari "malformation" in Crouzon syndrome. Arch Pediatr 1996: 3: 433-439.
33. Barnes L, Evenson JW, Reichart P et al. World Health Organization classification of tumours: Pathology and genetics, head and neck tumours. Lyon: IARC Press, 2005.
34. Anderson PJ, Hall C, Evans RD, Harkness WJ, Hayward RD, Jones BM. The cervical spine in Crouzon syndrome. Spine 1997: 22: 402-405.