Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

American Journal of Medical Genetics

Volumn 136 A, Issue 4, 2005, Pages 358-362

  McDonald McGinn, Donna M ^a   Gripp, Karen W ^e   Kirschner, Richard E ^a   Maisenbacher, Melissa K ^f   Hustead, Virginia ^b   Schauer, Galen M ^c   Keppler Noreuil, Kim M ^d   Ciprero, Karen L ^a   Pasquariello Jr , Patrick ^a   LaRossa, Don ^a   Bartlett, Scott P ^a   Whitaker, Linton A ^a   Zackai, Elaine H ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b Division of Neonatology   (United States)

^c University of Iowa Hospitals and Clinics ^*  (United States)

^d UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^e NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^f UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

22q11.2; Chromosome 22; Cranial fusion; Craniosynostosis; Microdeletion; Velocardiofacial syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR 1; FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR 3;

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; INCIDENCE; INFANT; MUTATIONAL ANALYSIS; NEWBORN; PRIORITY JOURNAL; THREE DIMENSIONAL IMAGING;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CRANIOSYNOSTOSES; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; SYNDROME;

EID: 23044496400     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30746     Document Type: Article

References (36)

1. Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA. 1995. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 4:763-766.
2. Cohen MM Jr. 1995. Craniosynostosis: Phenotypic/molecular correlations. Am J Med Genet 56:334-339.
3. Dean JCS, DeSilva, Deepthi C, Reardon W. 1998. Craniosynostosis and chromosome 22q11.2 deletion. J Med Genet 35(4):346.
4. Devriendt K, Swillen A, Fryns JP, Proesmans W, Gewillig M. 1996. Renal and urological tract malformations caused by a 22q11 deletion. J Med Genet 33:349.
5. DiGeorge AM. 1965. Discussion on a new concept of the cellular basis of immunology. J Pediatr 67:907-908.
6. Eicher PS, McDonald-McGinn DM, Fox CA, Driscoll DA, Emanuel BS, Zackai EH. 2000. Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow. J Peds 137:158-164.
7. el Ghouzzi V, LeMerrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bougeois P, Bolcato-Bellemin AI, Munnich A, Bonaventure J. 1997. Mutations in the TWIST gene in Saethre-Chotzen syndrome. Nat Genet 5:509-512.
8. Fan YS, Cairney AE, Siu VM. 1997. Polysplenia and neutropenia in a patient with 22q11 deletion and trichorhinopharyngeal syndrome. Am J Hum Genet 61S:A542.
9. Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM. Biegel JA, Emanuel BS. 1993. Microdeletions of chromosome region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30:807-812.
10. Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH. 1998. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. Am J Med Genet 78:356-360.
11. Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker L, Zackai EH. 1999. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome. Am J Med Genet 82:170-176.
12. Gripp KW, Zackai EH, Stolle CA. 2000. Mutations in the human TWIST gene. Human Mutat 15:150-155.
13. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Gacia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW. 1997. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15:36-41.
14. Hunter AG, Rudd NL. 1977. Craniosynostosis. II. Coronal synostosis: Its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology 15:301-309.
15. Lajeunie E, LeMerrer M, Bonait-Pellie C, Marchac D, Renier D. 1995. Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 55:500-504.
16. Lynch DR, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. 1995. Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet 32:561-563.
17. McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark BJ III, Emanuel BS, Zackai EH. 1995. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59:103-133.
18. McDonald-McGinn DM, LaRossa D, Randall P, Goldmuntz E, Clark BJ III, Sullivan K, Eicher P, Lynch D, Bingham P, Wang P, Gerdes M, Moss E, Solot C, Moshang T, Ming JE, Driscoll D, Emanuel BS, Zackai EH. 1997. The spectrum of the chromosome 22q11.2 deletion. Am J Hum Genet 61:A106.
19. McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, LaRossa D, Emanuel BS, Zackai EH. 1999a. The Philadelphia Story: The 22q11.2 deletion: Report on 250 patients. Genet Couns 10:11-24.
20. McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ III, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH. 1999b. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics 99:E9.
21. Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr., Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW. 1996. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndrome: Evidence for missense changes, insertions, and deletions due to alternative RNA splicing. Am J Hum Genet 58:491-498.
22. Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elics ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. 1997. Skeletal anomalies in patients with deletions of 22q11. Am J Med Genet 72:210-215.
23. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken W, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr., Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM, Zackai EH. 1997. A unique point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564.
24. Nickel RE, Magenis RE. 1996. Neural tube defects and deletions of 22q11. Am J Med Genet 66:25-27.
25. Portnoi MF, Joye N, Gonzales M, Demczuk S, Fermont L, Gaillard G, Bercau G, Morlier G, Taillemite JL. 1998. Prenatal diagnosis by FISH of a 22q11 deletion in two families. J Med Genet 35:165-168.
26. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. 1994. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 8:98-103.
27. Russell KL, McDonald-McGinn DM, Mahle W, Howell L, Kasperski S, Wilkes BM, Meyer-Cohen J, Adzick S, Zackai EH. 1999. Neonatal respiratory death in the 22q11.2 deletion. Am J Hum Genet 65:A342.
28. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nelson K, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34:798-804.
29. Schell U, Hehr A, Feldman G, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen MM Jr., Muenke M. 1995. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323-328.
30. Smith CA, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH, Sullivan KE. 1998. Increased prevalence of immunoglobulin. A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/Velocardiofacial syndrome). Clin Diag Lab Immunol 5:415-417.
31. Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G. 1997. JRA-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/Velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 40:430-436.
32. Sullivan KE, Jawad AF, Randall P, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH. 1998. The frequency and severity of immunodeficiency in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/Velocardiofacial syndrome). Clin Immunol Immunopathol 86:141-146.
33. Sullivan KE, McDonald-McGinn D, Driscoll DA, Emanuel BS, Zackai EH, Jawad AF. 1999. Longitudinal analysis of lymphocyte function and production in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge/ Velocardiofacial syndrome). Clin Diag Lab Immunol 6:906-911.
34. Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH. 1998. Growth hormone deficiency in patients with a 22q11.2 deletion: Expanding the phenotype. Pediatr 101:929-932.
35. Wilkie AOM. 1997. Craniosynostosis: Genes and mechanisms. Hum Mol Genet 6:1647-1656.
36. Zackai EH, Gripp KW, Stolle CA. 2000. Letter to the Editor. Craniosynostosis: Molecular testing-a necessity for counseling. Am J Med Genet 92:157.