Treacher Collins syndrome: Clinical implications for the paediatrician - A new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature

European Journal of Pediatrics

Volumn 171, Issue 11, 2012, Pages 1611-1618

  Schlump, Jan Ulrich ^a   Stein, Anja ^a   Hehr, Ute ^b   Karen, Tanja ^a   Möller Hartmann, Claudia ^a   Elcioglu, Nursel H ^c   Bogdanova, Nadja ^d   Woike, Hartmut Fritz ^e   Lohmann, Dietmar R ^a   Felderhoff Mueser, Ursula ^a   Linz, Annette ^f   Wieczorek, Dagmar ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^e Gemeinschaftskinderarztpraxis Woike/Husemann   (Germany)

^f Interdisciplinary Center for Craniofacial Malformations   (Germany)

Author keywords

Franceschetti syndrome; Severe phenotype; TCOF1 mutation; Treacher Collins syndrome

Indexed keywords

CASE REPORT; CLINICAL FEATURE; COMPARATIVE STUDY; CONDUCTION DEAFNESS; DISEASE SEVERITY; FRAMESHIFT MUTATION; HUMAN; HYDRAMNIOS; INFANT; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROCEPHALY; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NEWBORN DISEASE; PEDIATRICIAN; PHENOTYPE; PLAGIOCEPHALY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; REVIEW; SURGEON; TRACHEOSTOMY;

CHILD; FEMALE; FRAMESHIFT MUTATION; GENETIC MARKERS; HUMANS; INFANT, NEWBORN; MALE; MANDIBULOFACIAL DYSOSTOSIS; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHOPROTEINS;

EID: 84871311373     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1776-7     Document Type: Review

References (49)

1. Anderson PJ, Netherway DJ, Abbott A, Moore M, David DJ (2004) Mandibular lengthening by distraction for airway obstruction in treacher-collins syndrome: the long-term results. J Craniofac Surg 15(1):47-50
2. Bacher M, Sautermeister J, Urschitz M, Buchenau W, Arand J, Poets C (2011) An oral appliance with velar extension for treatment of obstructive sleep apnea in infants with the Pierre Robin sequence. Cleft Palate Craniofac J 48(3):331-336
3. Beygo J, Buiting K, Seland S, Lüdecke HJ, Hehr U, Lich C, Prager B, Lohmann DR, Wieczorek D (2011) First report of a single exon deletion in TCOF1 causing Treacher Collins syndrome. Mol Syndromol 2:53-59
4. Bowman1 M, Oldridge1 M, Archer1 C, O'Rourke1 A, McParland J, Brekelmans R, Seller A, Lester T (2012) Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. European Journal of Human Genetics. doi:10.1038/ejhg.2012.2
5. Buchenau W, Urschitz MS, Sautermeister J, Bacher M, Herberts T, Arand J, Poets CF (2007) A randomized clinical trial of a new orthodontic appliance to improve upper airway obstruction in infants with Pierre Robin sequence. J Pediatr 151:145-149
6. Bütow KW, Botha A (2010) A classification and construction of congenital lateral facial clefts. J Craniomaxillofac Surg 38(7):477- 484
7. Castillo-Morales R, Brondo J, Hoyer H, Limbrock GJ (1985) Treatment of chewing, swallowing and speech defects in handicapped children with Castillo-Morales orofacial regulator therapy: advice for pediatricians and dentists. Zahnarztl Mitt 75(9):935-942- 947-51
8. Cohen MM Jr (1999) Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability. Am J Med Genet 84:311-315
9. Collins ET (1933) Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Ophthal Soc UK 20:190-192
10. Dauwerse JG, Dixon J, Seland S et al (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 43:20-22
11. Dixon MJ (1996) Treacher Collins syndrome. Hum Mol Genet 1996:1391-1396
12. Dixon MJ, Marres HAM, Edwards SJ, Dixon J, Cremers CWRJ (1994) Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clin Dysmorphol 3:96-103
13. Dixon J, Trainor P, Dixon MJ (2007) Treacher Collins syndrome. Orthod Craniofacial Res 10:88-95
14. Dixon J, Trainor P, Dixon MJ (2008) Treack and Treacher Collins syndrome. In: Epstein CJ, Erickson RP, Wynshaw-Boris A (eds) Inborn errors of development. Oxford University Press, New York
15. Edery P, Manach Y, Le Merrer M, Till M, Vignal A, Lyonnet S, Munnich A (1994) Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. Am J Med Genet 52:174-177
16. Edwards SJ, Gladwin AJ, Dixon MJ (1997) The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature termination codon. Am J Hum Genet 60:515-524
17. Fisher E (2011) Exploring the genetic origins of Treacher Collins syndrome. Clin Genet 79:330-332
18. Franceschetti A, Klein D (1949) Mandibulo-facial dysostosis: new hereditary syndrome. Acta Ophthal 27:143-224
19. Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC (2005) The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Gene 14(14):2035- 2043
20. Gursoy S, Hukki J, Hurmerinta K (2008) Five year follow-up of mandibular distraction osteogenesis on the dentofacial structures of syndromic children. Orthod Craniofac Res 11:57-64
21. Hansen M, Leuarelli MJ, Whiteman DAH, Mulliken JB (1996) Treacher Collins Syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomoss. Am J Med Genet 61:71-74
22. Hayashi T, Sasaki S, Oyama A, Kawashima K, Horiuchi K,William M, Yamamoto Y (2007) New grading system for patients with treacher Collins syndrome. J Craniofac Surg 18(1):113-119
23. Hyvärinen A, Dietz A, Löppönen H (2011) Auditory rehabilitation path for children. Duodecim 127(8):819-825
24. Johnston C, Taussig LM, Koopmann C, Smith P, Bjelland J (1981) Obstructive sleep apnea in Treacher-Collins Syndrome. Cleft Palate J 18(1):39-44
25. Jones NC, Farlie PG, Minichiello J, Newgreen DF (1999) Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. Hum Mol Genet 8:2239-2245
26. Katsanis SH, Jabs EW (2011) Treacher Collins syndrome. In: Pagon RA, Bird TD, Dolan CR et al. (eds) GeneReviews. http:// www.ncbi.nlm.nih.gov/books/ NBK1532/
27. Kobus K, Wójcicki P (2006) Surgical treatment of Treacher Collins syndrome. Ann Plast Surg 56:549-554
28. Kochel J, Meyer-Marcotty P, Wirbelauer J, Böhm H, Kochel M, ThomasW, Bareis U, Hebestreit H, Speer C, Stellzig-Eisenhauer A (2011) Treatment modalities of infants with upper airway obstruction - review of the literature and presentation of novel orthopedic appliances. Cleft Palate Craniofac J 48(1):44-55
29. MacArdle BM, Bailey C, Phelps PD, Bradley J, Brown T, Wheeler A (2002) Cochlear implants in children with craniofacial syndromes: assessment and outcomes. Int J Audiol 41(6):347-356
30. Marres HA (2002) Hearing loss in the Treacher-Collins syndrome. Adv Otorhinolaryngol 61:209-215
31. Marres HA, Cremers CW, Dixon MJ, Huygen PL, Joosten FB (1995) The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 121:509-514
32. Marszalek B, Wojcicki P, Kobus K, Trzeciak WH (2002) Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet 43:223-233
33. Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R et al (2009) Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. BMC Med Genet 10:136
34. Moore MH, Guzman-Stein G, Proudman TW (1994) Mandibular lengthening by distraction for airway obstruction in Treacher- Collins syndrome. J Craniofacial Surg 5:22-25
35. Poets CF, Bacher M (2011) Treatment of upper airway obstruction and feeding problems in Robin-like phenotype. J Pediatr 159 (6):887-892
36. Poswillo D (1975) The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br J Oral Surg 13:1-26
37. Rosen D (2011) Management of obstructive sleep apnea associated with Down syndrome and other craniofacial dysmorphologies. Curr Opin Pulm Med 17(6):431-436
38. Saadeh PB, Chang CC, Warren SM et al (2008) (2008) Microsurgical correction of facial contour deformities in patients with craniofacial malformations: a 15-year experience. Plast Reconstr Surg 121:368e-378e
39. Shah FA, Ramakrishna S, Ingle V, Dada JE, Khabori MA, Murty PSN (2000) Treacher Collins syndrome with acute airway obstruction. Int J Pediatr Otorhinolaryngol 54:41-43
40. Shows KH, Shiang R (2008) Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression. DNA Cell Biol 27:589-600
41. Splendore A, Silva EO, Alonso LG, Richieri-Costa A et al (2000) High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 16:315-322
42. Stelnicki EJ, Lin WY, Lee C, Grayson BH, McCarthy JG (2002) Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia. Plast Reconstr Surg 109:1819-1825
43. Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S et al (2004) Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Europ J Hum Genet 12:879-890
44. Tessier P (1976) Anatomical classification of facial, cranio-facial and laterofacial clefts. J Maxillofac Surg 4:69-92
45. The Treacher Collins Syndrome Collaborative Group (1996) Nat Genet 12:130-136
46. Thomson A (1846) Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons. Month J Med Sci 7:420
47. Toynbee J (1847) Description of a congenital malformation in the ears of a child. Monthly J Med Sci 1:738-739
48. Trainor PA (2010) Craniofacial birth defects: the role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet Part A 152A:2984-2994
49. Trainor PA, Dixon J, Dixon MJ (2009) Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 17:275-283