Rare syndromes of the head and face-Pierre Robin sequence

Wiley Interdisciplinary Reviews: Developmental Biology

Volumn 2, Issue 3, 2013, Pages 369-377

  Tan, Tiong Yang ^a,b,c   Farlie, Peter G ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SOX9; TRANSFORMING GROWTH FACTOR BETA3;

AUTOSOMAL DOMINANT INHERITANCE; BONE DEVELOPMENT; CAMPOMELIC DYSPLASIA; CHROMOSOME 17; CHROMOSOME 2; CHROMOSOME 4; CHROMOSOME ABERRATION; CLINICAL FEATURE; CONGENITAL MALFORMATION; CRANIOFACIAL DEVELOPMENT; EMBRYO DEVELOPMENT; FETUS GROWTH; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; MANDIBLE HYPOPLASIA; MOLECULAR GENETICS; NEURAL CREST CELL; PHENOTYPE; PIERRE ROBIN SYNDROME; REVIEW; STICKLER SYNDROME;

ANIMALIA;

EID: 84876797433     PISSN: 17597684     EISSN: 17597692     Source Type: Journal    
DOI: 10.1002/wdev.69     Document Type: Review

References (62)

1. Robin P. A fall of the base of the tongue considered as a new cause of nasopharyngeal respiratory impairment. Bull Acad Natl Med (Paris) 1923, 89:37.
2. Bush PG, Williams AJ. Incidence of the Robin anomalad (Pierre Robin syndrome). Br J Plast Surg 1983, 36:434-437.
3. van den Elzen AP, Semmekrot BA, Bongers EM, Huygen PL, Marres HA. Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. Eur J Pediatr 2001, 160:47-53.
4. Printzlau A, Andersen M. Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J 2004, 41:47-52.
5. Cohen MM Jr. Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability. Am J Med Genet 1999, 84:311-315.
6. Sheffield LJ, Reiss JA, Strohm K, Gilding M, Opitz JM, Reynolds JF. A genetic follow-up study of 64 patients with the Pierre Robin complex. Am J Med Genet 1987, 28:25-36.
7. Jakobsen LP, Knudsen MA, Lespinasse J, Garcia Ayuso C, Ramos C, Fryns JP, Bugge M, Tommerup N. The genetic basis of the Pierre Robin sequence. Cleft Palate Craniofac J 2006, 43:155-159.
8. Vintiner GM, Temple IK, Middleton-Price HR, Baraitser M, Malcolm S. Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet 1991, 41:44-48.
9. Luke S, Bennett HS, Pitter JH, Verma RS. A new case of monosomy for 17q25-qter due to a maternal translocation [t(3;17)(p12;q24)]. Ann Genet 1992, 35:48-50.
10. Stalker HJ, Gray BA, Zori RT. Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects. Am J Med Genet 2001, 103:339-341.
11. Jamshidi N, Macciocca I, Dargaville PA, Thomas P, Kilpatrick N, McKinlay Gardner RJ, Farlie PG. Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation. J Med Genet 2004, 41:e1.
12. Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 2005, 76:652-662.
13. Knottnerus AC, de Jong DJA, Haumann TJ, Mulder JW. Higher incidence of twins in infants with Pierre Robin sequence. Cleft Palate Craniofac J 2001, 38: 284.
14. Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J. Pierre Robin sequence: a series of 117 consecutive cases. J Pediatr 2001, 139:588-590.
15. Shprintzen RJ. Pierre Robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis. Int Anesthesiol Clin 1988, 26:64-71.
16. Wiswell T, Edwards R. Presentation of the isochromosome trisomy 18 syndrome in an infant with the Robin anomalad. Hawaii Med J 1986, 45:126-127.
17. Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA. The tale of a nail sign in chromosome 4q34 deletion syndrome. Clin Dysmorphol 2006, 15:127-132.
18. Aboura A, Coulomb-L'Herminé A, Audibert F, Capron F, Frydman R, Tachdjian G. De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly. Am J Med Genet 2002, 108:153-159.
19. Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W. Confirmation of proximal 1q duplication using fluorescence in situ hybridization. Am J Med Genet 1994, 50:28-31.
20. Pihko H, Therman E, Uchida IA. Partial 11q trisomy syndrome. Hum Genet 1981, 58:129-134.
21. de Lonlay-Debeney P, de Blois M-C, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, et al. Ebstein anomaly associated with rearrangements of chromosomal region 11q. Am J Med Genet 1998, 80:157-159.
22. Wallerstein R, Desposito F, Aviv H, Schenk M, Wallerstein DF. Partial trisomy 11q in a female infant with Robin sequence and congenital heart disease. Cleft Palate Craniofac J 1992, 29:77-79.
23. Sahoo T, Theisen A, Sanchez-Lara PA, Marble M, Schweitzer DN, Torchia BS, Lamb AN, Bejjani BA, Shaffer LG, Lacassie Y. Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. Am J Med Genet A 2011, 155:1646-1653.
24. Chai Y, Jiang X, Ito Y, Bringas P, Han J, Rowitch DH, Soriano P, McMahon AP, Sucov HM. Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development 2000, 127:1671-1679.
25. Le Douarin N. The Neural Crest. Cambridge: Cambridge University Press; 1982.
26. Ronan O'Rahilly FM. The development of the neural crest in the human. J Anat 2007, 211:335-351.
27. Dunlop LL, Hall BK. Relationships between cellular condensation, preosteoblast formation and epithelial-mesenchymal interactions in initiation of osteogenesis. Int J Dev Biol 1995, 39:357-371.
28. Hall BK. The induction of neural crest-derived cartilage and bone by embryonic epithelia: an analysis of the mode of action of an epithelial-mesenchymal interaction. J Embryol Exp Morphol 1981, 64:305-320.
29. Wyganowska-Światkowska M, Przystańska A. The Meckel's cartilage in human embryonic and early fetal periods. Anat Sci Int 2011, 86:98-107.
30. Diewert VM. The role of craniofacial growth in palatal shelf elevation. In: Pratt RM, Christiansen R, eds. Current Research Trends in Prenatal Craniofacia Development. New York: Elsevier; 1980, 165-186.
31. Diewert VM. Contributions of differential growth of cartilages to changes in craniofacial morphology. Prog Clin Biol Res 1982, 101:229-242.
32. Mori-Akiyama Y, Akiyama H, Rowitch DH, de Crombrugghe B. Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest. Proc Natl Acad Sci U S A 2003, 100:9360-9365.
33. Seegmiller RE, Fraser FC. Mandibular growth retardation as a cause of cleft palate in mice homozygous for the chondrodysplasia gene. J Embryol Exp Morphol 1977, 38:227-238.
34. Ferguson MW. Palatal shelf elevation in the Wistar rat fetus. J Anat 1978, 125:555-577.
35. Yu W, Kamara H, Svoboda KKH. The role of twist during palate development. Dev Dyn 2008, 237:2716-2725.
36. Xiong W, He F, Morikawa Y, Yu X, Zhang Z, Lan Y, Jiang R, Cserjesi P, Chen Y. Hand2 is required in the epithelium for palatogenesis in mice. Dev Biol 2009, 330:131-141.
37. Proetzel G, Pawlowski SA, Wiles MV, Yin M, Boivin GP, Howles PN, Ding J, Ferguson MW, Doetschman T. Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet 1995, 11:409-414.
38. Tudela C, Formoso MA, Martinez T, Perez R, Aparicio M, Maestro C, Del Rio A, Martinez E, Ferguson M, Martinez-Alvarez C. TGF-beta3 is required for the adhesion and intercalation of medial edge epithelial cells during palate fusion. Int J Dev Biol 2002, 46:333-336.
39. Taya Y, O'Kane S, Ferguson MW. Pathogenesis of cleft palate in TGF-beta3 knockout mice. Development 1999, 126:3869-3879.
40. Xu X, Han J, Ito Y, Bringas P Jr, Urata MM, Chai Y. Cell autonomous requirement for Tgfbr2 in the disappearance of medial edge epithelium during palatal fusion. Dev Biol 2006, 297:238-248.
41. Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR. Prdm16 is required for normal palatogenesis in mice. Hum Mol Genet 2010, 19:774-789.
42. Schubert J, Jahn H, Berginski M. Experimental aspects of the pathogenesis of Robin sequence. Cleft Palate Craniofac J 2005, 42:372-376.
43. Genecov DG, Barcelo CR, Steinberg D, Trone T, Sperry E. Clinical experience with the application of distraction osteogenesis for airway obstruction. J Craniofac Surg 2009, 20(suppl 2):1817-1821.
44. Tibesar RJ, Scott AR, McNamara C, Sampson D, Lander TA, Sidman JD. Distraction osteogenesis of the mandible for airway obstruction in children: long-term results. Otolaryngol Head Neck Surg 2010, 143:90-96.
45. Evans AK, Rahbar R, Rogers GF, Mulliken JB, Volk MS. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol 2006, 70:973-980.
46. Melkoniemi M, Koillinen H, Mannikko M, Warman ML, Pihlajamaa T, Kaariainen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, et al. Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet 2003, 11:265-270.
47. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994, 79:1111-1120.
48. Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet 1999, 65:111-124.
49. Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. The phenotype of survivors of campomelic dysplasia. J Med Genet 2002, 39:597-602.
50. Bell DM, Leung KK, Wheatley SC, Ng LJ, Zhou S, Ling KW, Sham MH, Koopman P, Tam PP, Cheah KS. SOX9 directly regulates the type-II collagen gene. Nat Genet 1997, 16:174-178.
51. Ng LJ, Wheatley S, Muscat GE, Conway-Campbell J, Bowles J, Wright E, Bell DM, Tam PP, Cheah KS, Koopman P. SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. Dev Biol 1997, 183:108-121.
52. Benko S, Fantes JA, Amiel J, Kleinjan D-J, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 2009, 41:359-364.
53. Abadie V, Morisseau-Durand M, Beyler C, Manach Y, Couly G. Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. Eur J Pediatr 2002, 161:275-280.
54. Sherer DM, Metlay LA, Woods JR Jr. Lack of mandibular movement manifested by absent fetal swallowing: a possible factor in the pathogenesis of micrognathia. Am J Perinatol 1995, 12:30-33.
55. Grieshammer U, Lewandoski M, Prevette D, Oppenheim RW, Martin GR. Muscle-specific cell ablation conditional upon Cre-mediated DNA recombination in transgenic mice leads to massive spinal and cranial motoneuron loss. Dev Biol 1998, 197:234-247.
56. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics 1983, 72:857-863.
57. Banker BQ. Arthrogryposis multiplex congenita: spectrum of pathologic changes. Hum Pathol 1986, 17:656-672.
58. Carey JC, Fineman RM, Ziter FA. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. J Pediatr 1982, 101:858-864.
59. Rodriguez JI, Palacios J, Ruiz A, Sanchez M, Alvarez I, Demiguel E. Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. Teratology 1992, 45:213-221.
60. Baujat G, Faure C, Zaouche A, Viarme F, Couly G, Abadie V. Oroesophageal motor disorders in Pierre Robin syndrome. J Pediatr Gastroenterol Nutr 2001, 32:297-302.
61. Baudon J, Renault F, Goutet J, Flores-Guevara R, Soupre V, Gold F, Vazquez M. Motor dysfunction of the upper digestive tract in Pierre Robin sequence as assessed by sucking-swallowing electromyography and esophageal manometry. J Pediatr 2002, 140:719-723.
62. Scott AR, Tibesar RJ, Lander TA, Sampson DE, Sidman JD. Mandibular distraction osteogenesis in infants younger than 3 months. Arch Facial Plast Surg 2011, 13:173-179.