Bibliography & Research



The following is a list of publications related to Stickler Syndrome and or the symptoms of the syndrome. This bibliography listing is not all-inclusive, and may not include very recently published works. Recommendations of articles to be added to this listing are welcome and can be directed to This list was last updated on July 2008.

List of Stickler-related medical research and publications.

03     TI:  Hereditary Progressive Arthro-Ophthalmopathy     OMIM-108300-SS Type I] SS     AU: Stickler, GB  Belau, PG  Farrell, FJ  Jones, JD  Pugh, DG Steinberg, AG  Ward, LE  SO:  Mayo Clinic Proceedings  1965  Jun  40(6):433-455

04     TI:  Hereditary Progressive Arthro-Ophthalmopathy II: Additional Observations on Vertebral Abnormalities, A Hearing Defect and a Report of a Similar Case AU: Stickler, GB  Pugh, DG OMIM-108300-SS Type I]SO:  Mayo Clinic Proceedings  1967 Aug  42(8):495-500

15     TI:  The Stickler Syndrome     [OMIM-108300-SS Type I]SSL     AU: Opitz ,JM  France, T  Herrmann, J  Spranger, JW     SO:  The New England Journal of Medicine 1972  Mar 9  286(10):546-547

18     TI:  Stickler Syndrome in a Pedigree of Pierre Robin Syndrome SSL     AU: Schreiner, RL  McAlister, WH  Marshall, RE  Shearer, WT             SO:     American Journal of Diseases of Children  1973  Jul  126(1):86-90

20     TI:   Stickler Syndrome. Presenting as a Syndrome of Cleft Palate, Myopia and Blindness Inherited as a Dominant Trait   SSL AU: Hall, J     [OMIM-108300-SS Type I]  SO:  Birth Defects, Original Article Series   1974   Aug  10(8):157-171                          

21     TI:  Stickler’s syndrome (hereditary progressive arthro-ophthalmopathy) SSL  AU: Popkin, JS  Polomeno, RC     [OMIM-108300-SS Type I]  SO:  Canadian Medical Association Journal  1974  Nov 16  111(10):1071-1076 

22     TI:  The Stickler Syndrome in a Family With Pierre Robin Syndrome and Severe Myopia  SS AU: Turner, G  [OMIM-108300-SS Type I]    SO:  Australian Paediatric Journal   1974   10:103-108

24     TI:  The Stickler Syndrome (Hereditary Arthroophthalmopathy)    {OMIM-108300-SS Type I]SSL      AU: Herrmann, J  France, TD  Spranger, JW  Opitz, JM  Wiffler, C     SO:  Birth Defects, Original Article Series   1975   Feb   11(2):76-103 

27     TI:  The Stickler Syndrome SSL   AU: Herrmann, J  France, TD  Opitz, JM     SO:  Birth Defects, Original Article Series   1975 Jun   11(6):203-204 

28     TI:  Stickler Syndrome: Report of a Second Australian Family SSL     AU: Kozlowski, K  Turner, G    SO:  Pediatric Radiology  1975 Sep 15  3(4):230-234

30     TI:  The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness SSL   AU: Hall, JG  Herrod, H       SO:  Journal of Medical Genetics    1975 Dec 12(4):397-400 

31     TI:  Giant tear of the retinaVIS    AU:  Scott, JD     SO: Transactions of the Ophthalmological Society of UK   1975    95:142-144 

32     TI:  The Stickler Syndrome (Hereditary Arthro-ophthalmopathy)    [OMIM-108300-SS Type I]  SSL    AU: Gellis, SS  Feingold, M     SO:  American Journal of Diseases of Children   1976  Jan 130(1):65-66

37     TI:  The Stickler syndrome (Hereditary arthro-ophthalmopathy)    [OMIM-108300- SS Type I]SSL     AU: Say, B  Berry, J  Barber, N     SO: Clinical Genetics   1977  Sep 12(3):179-182

44     TI:  The Wagner-Stickler Syndrome – A Genetic Study SSL/     AU: Liberfarb, RM  Hirose, T  Holmes, LBSYN   SO:  Birth Defects, Original Article Series 1979 Sep-Oct  15(5B):145-154

46     TI:  Hereditary Progressive Arthro-Ophthalmopathy of Stickler   [OMIM-108300- SS Type I] SSL     AU: Blair, NP  Albert, DM  Liberfarb,  RM  Hirose, T    SO: American Journal of Ophthalmology  1979 Nov 88(5):876-888 

47     TI:  Stickler’s syndrome and neovascular glaucoma SSL/     AU: Young, NJA  Hitchings, RA   Sehmi, K  Bird, ACVIS  SO: British Journal of  Ophthalmology 1979 63:826-831

54     TI:  Stickler’s Syndrome SSL   AU: Nielsen, CE     SO: Acta Ophthalmologica (Copen.)  1981  Apr  59(2):286-295

56     TI:  The Wagner-Stickler syndrome: A study of 22 families  SSL     AU:  Liberfarb, RM  Hirose, T  Holmes, LB     SO:  The Journal of Pediatrics   1981  Sept 99(3):394-399

57     TI:  The Wagner-Stickler syndrome complex SSL/    AU: Godel, V  Nemet P Lazar, MSYN  SO:  Documenta Ophthalmologica  1981  Dec 16  52(2):179-188

60     TI:  The Wagner-Stickler Syndrome  SSL/    AU: Liberfarb, RM  Hirose, TSYN    SO:  Birth Defects  Original Article Series  1982  18(6):525-538

63     TI:  Marshall/Stickler syndrome SSL/     AU: Baraitser, MSYN     SO: Journal of Medical Genetics  1982  Apr  19(2):139-140

67     TI:  Stickler Syndrome: A Cephalometric Study of the Face  SSL     AU: Saksena, SS  Bixler, D  Yu, P-L   SO:  Journal of Craniofacial Genetics and Developmental Biology  1983  Jan   3(1):19-28

68     TI:  The Weissenbacher-Zweymuller, Stickler and Marshall Syndromes. Further Evidence for Their Identity  SSL/     AU: Winter, RM  Baraitser, M  Laurence, KM  Donnai, D  Hall, CM  [OMIM-108300-SS Type I]SYN      SO:  American Journal of Medical Genetics  1983  Oct  16(2): 189-199 

69     TI:  Type II Collagen-Induced Autoimmune Otospongiosis: A Preliminary Report  COL  AU:  Yoo, TJ  Tomoda, K  Stuart, JM  Kang, AH  Townes, AS     SO: Annals of Otology, Rhinology & Laryngology  1983  92:103-108 

70     TI:  Type II Collagen-Induced Autoimmune Sensorineural Hearing Loss and Vestibular Dysfunction in Rats  COL  AU:  Yoo, TJ  Tomoda, K  Stuart, JM  Cremer, MA  Townes, AS  Kang, AH     SO: Annals of Otology, Rhinology & Laryngology  1983 92:267-271

73     TI: The Marshall and  Stickler syndromes: objective rejection of lumping  SSL/     AU: Ayme, S,   Preus, MSYN       SO:  Journal of Medical Genetics    1984  Feb 21:34-38

74     TI: Heritable Diseases Of Collagen/Marfan Syndrome/Ehlers-Danlos COL    AU: Prockop, DJ  Kivirikko, KI     SO:  The New England Journal of Medicine   Aug 9   1984  311(6):376-386

81     TI:  Identification and  characterization of the human type 11 collagen gene(COL2A1)  SS/     AU: Cheah, KSE   Stoker, NG  Griffin, JR  Grosveld, FG  Solomon, ECOL     SO: Proceedings of the National Academy of Science USA  1985  May 82:2555-2559

91     TI:  Prevalence of Mitral-Valve Prolapse in the Stickler Syndrome SSL/      AU: Liberfarb, RM  Goldblatt, A   [OMIM-108300-SS Type I]HEA       SO:  American Journal of Medical Genetics   1986  Jul  24(3):387-392

92     TI:  Collagen Gene Analysis in the Marfan and Stickler Syndromes [OMIM-108300   SS Type1]SS/     AU:  Francomano, CA  Le, P-L  Liberfarb, R  Streeten, E Pyeritz, RESYN    SO:  American Journal of Human Genetics  1986  39: A92 (Supp)

94     TI:  Stickler’s syndrome: a study of 12 families  [OMIM-108300-SS Type I]  SSL     AU: Spallone, A      SO:  British Journal of Ophthalmology  1987  Jul   71(7):504-509

99     TI:   The Stickler Syndrome: Evidence for Close Linkage to the Structural Gene for Type II Collagen SSL/        AU: Francomano, CA  Liberfarb, RM  Hirose, T Maumanee, IH, et al  [OMIM-108300-SS Type1]COL   SO: Genomics   1987  Dec  1(4):293-296 

100     TI:  Otolaryngological manifestations of the Stickler syndrome
SSL     AU: Lucarini, JW  Liberfarb, RM  Eavey, RD     SO:  Internat’l Journal of Pediatric Otorhinolaryngology  1987 Dec 14(2-3):215-222 

102     TI:  Cosegregation of Stickler syndrome and type II collagen gene alleles. SS   AU:  Francomano, CA  Maumenee, I  Liberfarb, R  Pyeritz, RE    SO:  Cytogenetic & Cell Genetics  1987  46:615A

109     TI:  The Stickler Syndrome is Closely Linked to COL2A1, the Structural Gene for Type II Collagen  SSL     AU: Francomano, CA Liberfarb, RM  Hirose, T  Maumanee, IH  Streeton, EA Meyers, DA Pyeritz, RE     SO:  Pathology and Immunopathology Research   1988  7(1-2):104-106 

110     TI:  The Stickler and Wagner syndromes: Evidence for genetic heterogeneity  SS      AU: Francomano, CA  Rowan, BG  Liberfarb, RM  Hirose, T Maumenee, IH Stoll, HU Pyeritz, RE     SO:  American Journal of Human Genetics   1988 43 (suppl):A83  

111     TI:  Type II Collagen Gene Analysis in the Epiphyseal Dysplasias SS     AU:  Francomano, CA Rowan, BG   Maumenee, IH  Liberfarb, RM  Hirose, T  Stoll,HU  Pyeritz, RE     SO:  Clinical Genetics Conference: “Heritable Disorders of Connective Tissue and Skeletal Dysplasias” 1988 Jul 10-13 P.1  

118     TI:  Stickler’s syndrome  [OMIM-108300- SS Type I]  SSL     AU: Temple, IK     SO: Journal of Medical Genetics  1989 Feb 26(2):119-126  

119     TI:  Stickler’s syndrome. A report of a family SSL     AU: Hill, JC   Nelson, MM      SO: South African Medical Journal  1989  Mar 4  75(5):238-241

121     TI:  Thoracic Disc Herniation and Paraplegia in Stickler’s Syndrome  SSL     AU: Harkey, HL  Cullom, ET  Parent, AD     SO:  Neurosurgery  1989  Jun 24(6):909-912

129     TI:  Non-allelic genetic heterogeneity in the vitreoretinal degenerations of the Stickler and Wagner types and evidence for SS/ intragenic recombination at the COL2A1 locus. SYN     AU: Schwartz,RC Watkins,D  Fryer,AE Goldberg,R  Marion,R Polomeno,RC Spallone,A Upadhyaya,M Harper,P TsipourasP    SO:  American Journal of Human Genetics  1989  45:A218   (Suppl) [OMIM-108300-SS Type I]  

131     TI:  Hearing Loss in Stickler’s Syndrome: A Family Case Study  SSL     AU: Jacobson, J  Jacobson, C  Gibson, W     SO: Journal of the American Academy of Audiology  1990  Jan 1(1):37-40

139     TI:  Distinctive Cataract  in the Stickler Syndrome     [OMIM-108300-SS Type I]  SSL    AU:  Seery, CM  Pruett, RC  Liberfarb, RM  Cohen, BZ      SO:  American Journal of  Ophthalmology  1990  Aug 15  110(2):143-148

146     TI:  The Parental Experiences of Mothers of Adolescents with Hearing Impairments  ENT     AU:  Morgan-Redshaw, M  Wilgosh, L Bibby, MA     SO: American Annals of the Deaf   1990  Oct  135(4): 293-298 

147     TI:  Stickler Syndrome  SSL     AU: Bennett, JT  McMurray, SW     SO: Journal of Pediatric Orthopaedics  1990  Nov-Dec  10(6):760-763

153     TI:  Stickler Syndrome/Marshall Syndrome      [Internet/website version only  ]SS       AU:  [Boys Town National Research Register for Hereditary Hearing Loss]     SO:  Hereditary Deafness Newsletter of America  1990  Winter  2(4):4-6

161     TI:  Genetic and Clinical Heterogeneity of Stickler Syndrome     [OMIM-108300-SS Type I]  SSL    AU: Vintiner, GM Temple, IK  Middleton-Price, HR  Baraister, M  Malcolm, S     SO:  American Journal of  Medical Genetics  1991  Oct 41(1):44-48

165     TI:  Variability of Stickler Syndrome [OMIM-108300-SS Type I]SSL     AU: Ziotogora, J  Sagi, M  Schuper, A  Leiba, H  Merin, S     SO:     American Journal of Medical Genetics  1992  Feb 1  42(3):337-339

186     TI:  Procollagen II Gene Mutation in Stickler Syndrome. SSL     AU: Brown ,DM  Nichols, BE  Weingeist, TA  Sheffield, VC  Kimura, AE  Stone, EM     SO: Archives of Ophthalmology  1992  Nov 110(11):1589-1593

190     TI:  Linkage Analysis of Stickler’s Syndrome And The Type II Procollagen Gene (ARVO abstract  506-12).  SS    AU: Fine, AM  Wiggs, JL  DeLaPaz, MA  Berrocal, AM   Mukai, S       SO:  Investigative Ophthalmology & Visual Science  1992 33(suppl):793 

191     TI:  Stickler Syndrome Report Of Four Cases.SSL AU: Kulkarni, MI Sureshkumar, C  George, VG     SO:  Annals of Dentistry   1993  Jan/Winter  52(2):23-27  

192     TI:  Stickler’s Syndrome. SSL      AU: Niffenegger, JH  Topping, TM  Mukai, S     SO:  International Ophthalmology Clinics   1993  Jan/Spring  33(2):271-280

203     TI:  Stickler hereditary arthro-ophthalmopathy: a heterogenous phenotype. SS   AU: Ragge, NK  Cohn, DH, Wilkin, DJ, Chin, R  Murphree, AL, Falk, RE       SO: American Journal of Human Genetics  1993  Jul  53(1) suppl  490

228     TI:  A Stickler syndrome gene is linked to chromosone 6 near the COL11A2 gene. SSL      AU: Brunner, HG van-Beersum, SEC Warman, ML Olsen, BR, Ropers, H-H Mariman, ECM       SO:  Human Molecular Genetics  1994  Sep  3(9):1561-1564

234     TI: Type II Collagen Mutations in Rare and Common Cartilage Diseases.  COL     AU: Vikkula, M  Metsarenta, M  Alo-Kokko, L     SO: Annals of Medicine  1994  26:107-114

260     TI:  Stickler Syndrome: A Mutation in the Nonhelical 3’ End of Type II Procollagen Gene.SSL    AU: Ahmad, NN  Dimascio, J  Knowlton, RG Tasman ,WS     SO:  Archives of Ophthalmology   1995  Nov  113:1454-1457 

280     TI:  Stickler Syndrome Type 2 and Linkage to the COL11A1 Gene  SSL     AU: Snead, MP Yates, JRW  Williams, R  Payne, SJ  Pope, FM  Scott, JD     SO: Annals of the New York Academy of Sciences  1996  Jun 8 785:331-332

283     TI:  Book Review: Stickler – The Elusive Syndrome  by Wendy Hughes  SS     AU:  Snead, M     SO:  British Journal of Ophthalmology  1996  Jun  80(6):580

289     TI:  A family with Stickler syndrome type 2 has a mutation in the COL11A1gene resulting in the substitution of glycine 97  by valine in alpha 1 (XI) collagen.SSL      AU:  Richards, AJ  Yates, JR  Williams, R  Payne, SJ  Pope, FM  Scott, JD  Snead, MPSO:  Human Molecular Genetics  1996  Sep 1  5(9):1339-1343

292     TI:  Long-term Follow-up of Ocular Findings in Children With Stickler’s Syndrome  SSL     AU:  Wilson, McDonald-McGinn, Quinn,  Markowitz,  LaRossa, Pacuraru, Zhu,  Zackai      SO:  American Journal of Ophthalmology  1996 Nov  727-728 

293     TI:  Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler  syndrome  SSL   AU:  Snead, MP  Yattes, JRW Pope, FM  Temple IK  Scott, JD      SO:  Graefes Arch Clin Exp Ophthalmology   1996 Nov 1 234(11):720-721 

294     TI:  Retinal detachment in identical twins with Stickler syndrome type 1  SSL      AU:  Watanabe, Y Ueda, M  Adachi-Usami, E     SO:  British Journal of Ophthalmology  1996  Nov 1  80(11):976-981

321     TI:  Stickler Syndrome  SSL     AU: MacDonald, MR  Kolodziej, P  Schaefer, GB  Olney, AH     SO:  Ear, Nose &Throat Journal   1997 Oct 1  76(10):706

331     TI:  Stickler Syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha 2 (XI)  chain of type XI collagen    SSL      AU: Sirko-Osadsa, DA Murray, MA  Scott, JA  Lavery, MA  Warman, ML  Robin, NH       SO: The Journal of Pediatrics  1998  Feb, 132(2):368-371

338     TI:  Marshall Syndrome Associated with a Splicing Defect at the COL11A1Locu  SSL      AU: Griffith, AJ  Sprunger, LK  Sirko-Osadsa, DA  Tiller, GE  Meisler, MH Warman, MLSYN        SO:  American Journal of Human Genetics  1998 Apr  62:816-823

404     TI:  Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity  SSL      AU: Martin, S  Richards, AJ  Yates, JRW  Scott, JD Pope, M   Snead, MP     SO:  European Journal of Human Genetics   1999  Oct-Nov 7(7):807-814

408     TI:  Molecular Diagnosis of Stickler Syndrome: A COL2A1 Stop Codon Mutation Screening Strategy That Is  Not Compromised by Mutant mRNA Instability.SSL      AU:  Freddi S, Savarirayan R, Bateman JF     SO:  American Journal of Medical Genetics. 2000 Feb 28; 90(5):398-406. 

409     TI:  Hearing Loss in the Nonocular Stickler Syndrome Caused by a COL11A2 Mutation.SSL     AU:  Admiraal RJ, Brunner HG, Dijkstra TL, Huygen PL, Cremers CW.    SO:  The Laryngoscope. 2000 Mar  110(3 Pt 1):457-461 

410     TI: The Stickler syndrome: case reports and literature review.    SSL  AU: Bowling EL, Brown MD, Trundle TV.SO:  Optometry. 2000 Mar  71(3):177-182.

414     TI:  COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes SSL     AU:  Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, Snead MP.       SO:  British  Journal of  Ophthalmology. 2000 Apr  84(4):364-371

419     TI:  Rapid Determination of COL2A1 Mutations in Individuals With Stickler Syndrome: Analysis of Potential Premature Termination Codons.SSL      AU:   Wilkin DJ, Liberfarb R, Davis J, Levy HP, Cole WG, Francomano CA, Cohn DH.      SO: American Journal of Medical Genetics    2000 Sep 11;94(2):141-148.

443     TI:   The Hip in Stickler SyndromeSSL    AU:  Rose PS, Ahn NU, Levy HP, Magid D, Davis J, Liberfarb RM, Sponseller PD, Francomano  CA.   SO:  Journal of Pediatric Orthopaedics 2001 Sep-Oct;21(5):657-663. 

444     TI:  Auditory Dysfunction in Stickler Syndrome. SSL     AU: Szymko-Bennett YM, Mastroianni MA, Shotland LI, Davis J, Ondrey FG, Balog JZ, Rudy SF,  McCullagh L, Levy HP, Liberfarb RM, Francomano CA, Griffith AJ.     SO: Archives of Otolaryngology Head and Neck Surgery  2001 Sep;  127(9):1061-1068.

481     TI: The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.SSL      AU:  Liberfarb, RM Levy, HP  Rose, PS  Wilkin, DJ  Davis, J  Balog, JZ Griffith, AJ  Szymko-Bennett, YM  Johnston, JJ     Francomano, CA     SO:  Genetics in Medicine. 2003 Jan-Feb  5(1):21-27

490     TI:  Management of Genetic Syndromes 2nd Edition (Cassidy S, Allanson J, eds)    AU:   Francomano CA, Wilkin DJ, Liberfarb RM    SO: New York, Wiley Liss: 2005 Ch. 45 Stickler Syndrome: p.539-546.

511     TI:  Stickler syndrome: Clinical Characteristics and Diagnostic Criteria SSL     AU:  Rose, PS Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA,    SO:  American Journal of  Medical Genetics (A). 2005 Oct 15  138 (3):199-207

513     TI:  Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe. SSL    AU: Macrae ME, Patel DV, Richards AJ, Snead MP, Tolmie J. Lee WR      SO: Eye. 2005 Dec 2; [Epub ahead of print]

514     TI:  A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome  SSL     AU: Leung L, Hyland JC, Young A, Goldberg MF, Handa JT     SO:  Retina. 2006 Jan;26(1):106-9. No abstract available.