Robin sequences and complexes: Causal heterogeneity and pathogenetic/phenotypic variability

American Journal of Medical Genetics

Volumn 84, Issue 4, 1999, Pages 311-315

  Cohen Jr , M Michael ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

Author keywords

Connective tissue dysplasia; Deformation; del(22q11.2) syndrome; Malformation; Spondyloepiphyseal dysplasia congenita; Stickler dysplasia; Treacher Collins syndrome

Indexed keywords

GENETIC HETEROGENEITY; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; PATHOGENESIS; PHENOTYPE; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; REVIEW;

GENETIC HETEROGENEITY; HUMANS; MANDIBLE; PHENOTYPE; PIERRE ROBIN SYNDROME;

EID: 0345120582     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990604)84:4<311::AID-AJMG1>3.0.CO;2-9     Document Type: Review

References (33)

1. Abruzzo MA, Erickson RP. 1977. A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. J Med Genet 14:76-80.
2. Arvystas M, Shprintzen RJ. 1984. Craniofacial morphology in the velo-cardio-facial syndrome. J Craniofac Genet Dev Biol 4:39-45.
3. Behrents RG, McNamara JA, Avery JK. 1977. Prenatal mandibulofacial dysostosis (Treacher Collins syndrome). Cleft Palate J 14:13-34.
4. Bruce A, Winship I. 1993. Radial ray defect and Robin sequence: a new syndrome? Clin Dysmorph 2:241-244.
5. Carey JC, Fineman RM, Ziter FA. 1982. The Robin sequence as a consequence of malformation, dysplasia and neuromuscular syndromes. J Pediatr 101:353-364.
6. Chitayat D, Meunier CM, Hodgkinson KA, Azouz ME. 1991. Robin sequence with facial and digital anomalies in two half-brothers by the same mother. Am J Med Genet 40:1167-1172.
7. Cohen MM Jr. 1976. The Robin anomalad - its nonspecificity and associated syndromes. J Oral Surg 34:587-593.
8. Cohen MM Jr. 1979. Syndromology's message for craniofacial biology. J Maxillofacial Surg 7:89-109.
9. Cohen, MM Jr. 1981. Syndromology's message for craniofacial biology. In: Barrer H., editor. Orthodontics: the state of the art. University of Pennsylvania Press, p 323-351.
10. Cohen MM Jr. 1982. The child with multiple birth defects. New York: Raven Press.
11. Cohen, MM Jr. 1989. Syndromology: an updated conceptual overview. Part IV. Perspectives on malformation syndromes. Int J Oral Maxillofac Surg 18:286-290, 1989.
12. Cohen, MM Jr. 1990. Chapter 2. In: McCarthy, JG, editor. Dysmorphology, syndromology, and genetics in plastic surgery, Volume 1, General principles. Philadelphia: Saunders. p 69-112.
13. Cohen, MM Jr. 1996. Chapter 3. In:, Bluestone CD, Stool SE, Kenna MA, editors. Genetics, syndromology, and craniofacial anomalies in pediatric otolaryngology, 3rd ed., vol. 1. Philadelphia: Saunders. p 33-61.
14. Cohen, MM Jr. 1997a. The child with multiple birth defects. 2nd ed. New York: Oxford University Press.
15. Cohen MM Jr. 1997b. Discussion: need for velopharyngeal management following palatoplasty: an outcome analysis of syndromic and nonsyndromic patients with Robin sequence. Plast Reconstr Surg 99:1530-1534.
16. Froster-Iskenius UG, Waterson JR, Hall JG. 1988. A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. J Med Genet 25:104-112.
17. Glander K II, Cisneros GJ. 1992. Comparison of the craniofacial characteristics of two syndromes associated with the Pierre Robin sequence. Cleft Palate-Craniofacial J 29:210-219.
18. Harding CO, Green CG, Perloff WH, Pauli RM. 1990. Respiratory complications in children with spondyloepiphyseal dysplasia congenita. Pediatr Pulmonol 9:49-54.
19. Kreiborg S, Cohen MM Jr. 1996. Chapter 3. In: Turvey TA, Vig KWL, Fonseca RJ, editors. Syndrome delineation and growth in orofacial clefting and craniosynostosis in facial clefts and craniosynostosis: principles and management. Philadelphia: Saunders. p 57-75.
20. Pruzansky S. 1969. Not all dwarfed mandibles are alike. BD: OAS V(2): 120-129.
21. Pruzansky S. 1973. Clinical investigation of the experiments of nature. ASHA Rep 8:62-94.
22. Richieri-Costa A, Pereira SCS. 1992. Short-stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome. Am J Med Genet 42:681-687.
23. Sanderson DM, Fraser FC. 1983. Syndrome identification case report 99: proptosis, Robin association, clenched hands, and multiple abnormalities. J Clin Dysmorphol 1(2):19.
24. Schimke RN, Collins DL, Hiebert JM. 1993. Congenital nonprogressive myopathy with Möbius and Robin sequence - the Carey-Fineman-Ziter syndrome: a confirmatory report. Am J Med Genet 46:721-723.
25. Schrander-Stumpel C, Fryns JP, Frits AB, Rive AF. 1991. Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Am J Med Genet 38:557-561.
26. Sher AE. 1992. Mechanisms of airway obstruction in Robin sequence: implications for treatment. Cleft Palate-Craniofacial J 29:224-231.
27. Shprintzen RJ. 1988. Pierre Robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis. Int Anesthesiol Clin 26:64-71.
28. Shprintzen RJ. 1992. The implications of the diagnosis of Robin sequence. Cleft Palate-Craniofacial J 29:205-209.
29. Spranger JW, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW. 1982. Errors of morphogenesis: concepts and terms. J Pediatr 100:160-165.
30. Stoll C, Kleny J-R, Dott B, Alembik Y, Finck S. 1992. Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin sequence in three generations: a new inherited MCA syndrome? Am J Med Genet 42:480-486.
31. Toriello HV, Carey JC. 1988. Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive syndrome? Am J Med Genet 31:17-23.
32. Verloes A, Soyeur-Broux M, Arrese-Estrada J, Piérand-Franchimont C, Dodinval P, Piérand GE. 1990. Poikiloderma, alopecia, retrognathia and cleft palate; the PARC syndrome. Is this an undescribed dominantly inherited syndrome? Dermatologica 181:142-144.
33. Wulfsberg EA, Leana-Cox J, Neri G. 1997. Reply to "What's in a name? The 22q11.2 deletion" [letter to the editor]. Am J Med Genet 72:248-249.