Invited editorial comment: The nosology of the Smith-Lemli-Opitz syndrome
1987; Wiley; Volume: 28; Issue: 3 Linguagem: Inglês
10.1002/ajmg.1320280319
ISSN1096-8628
AutoresVíctor B. Penchaszadeh, John M. Opitz, James F. Reynolds,
Tópico(s)Prenatal Substance Exposure Effects
ResumoAmerican Journal of Medical GeneticsVolume 28, Issue 3 p. 719-721 Article Invited editorial comment: The nosology of the Smith-Lemli-Opitz syndrome Dr. Victor B. Penchaszadeh, Corresponding Author Dr. Victor B. Penchaszadeh Division of Medical Genetics, Department of Pediatrics, Beth Israel Medical Center; Mount Sinai School of Medicine, New York, New YorkDivision of Medical Genetics, Beth Israel Medical Center, First Avenue at 16th Street, New York, New York 10003Search for more papers by this authorJohn M. Opitz, John M. Opitz EditorSearch for more papers by this authorJames F. Reynolds, James F. Reynolds EditorSearch for more papers by this author Dr. Victor B. Penchaszadeh, Corresponding Author Dr. Victor B. Penchaszadeh Division of Medical Genetics, Department of Pediatrics, Beth Israel Medical Center; Mount Sinai School of Medicine, New York, New YorkDivision of Medical Genetics, Beth Israel Medical Center, First Avenue at 16th Street, New York, New York 10003Search for more papers by this authorJohn M. Opitz, John M. Opitz EditorSearch for more papers by this authorJames F. Reynolds, James F. Reynolds EditorSearch for more papers by this author First published: November 1987 https://doi.org/10.1002/ajmg.1320280319Citations: 9AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References Baraitscr M, Thompson E (1987): Letter to the editor: Nosology of Smith-Lemii-Opitz syndrome. Am J Med Genet 28: 733–734. Belmont JW, Hawkins E, Hejtmancik JF, Greenberg F (1987): Letter to the Editor: Two cases of severe lethal Smith-Lemli-Opitz syndrome. Am J Med Genet 26: 65–67. Bialer MG, Penchaszadeh VB, Kahn E, Libes R, Krigsman G, Lesser ML (1987): Female external genitalia and Müllerian duct derivatives in a 46, XY infant with the Smith-Lemli-Opitz syndrome. Am J Med Genet 28: 723–731. Curry CJR, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, McGravey V, Dabiri C, Schimke N, Ives E, Hail BD (1987): Smith-Lemli-Opitz syndrome - Type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26: 45–57. Donnai D, Young ID, Owen WG, Clark SA, Miller PFW, Knox WF (1986): The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia and unilobar lungs, J Med Genet 23: 64–71. Donnai D, Burn J, Hughes H (1987): Letter to the Editor: Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome? Am J Med Genet 28: 741–743. Greenberg F, Gresik MV, Carpenter RJ, Law SW, Hoffman LP, Ledbetter DH (1987): The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. Am J Med Genet 26: 59–64. Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD (1980): Congenital hypothaiamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly. A new syndrome? Part I: Clinical, causal and pathogenetic considerations. Am J Med Genet 7: 47–74. Jeanty Ph, Delbeke D, Lemli L, Dorchy H (1977): Smith-Lernli-Opitz syndrome without failure to thrive. Acta Paediatr Belg 30: 175–178. Johnson VP (1975): Smith-Lemli-Opit/ syndrome: Review and report of two affected siblings. Z Kinderheilk 119: 221–234. Lowry RB (1983): Editorial Comment: Variability in the Smith-Lemli-Opitz syndrome: Overlap with the Meckel syndrome. Am J Med Genet 5: 137–143. Lowry RB, Yong S-L (1980): Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet 5: 137–143. Opitz JM, Lowry RB (1987): Editorial note: Lincoln vs Douglas again Comments on the papers by Curry et al, Greenberg et al, and Belmont et al. Am J Med Genet 26: 69–71. Preus M, Fraser FC (1976): A methodology for establishing a diagnostic index for syndromes of unknown etiology. Clin Genet 10: 249–259. Scarbrough PR, Huddleston K, Finley SC (1986): An additional case of Smith-Lemli-Opitz syndrome in a 46, XY infant with female external genitalia. J Med Genet 23: 174–175. Salonen R, Herva R, Norio (1981): The hydrolethalus syndrome: Delineation of a “new” lethal malformation syndrome based on 28 patients. Clin Genet 19: 321–330. Silengo M, Kaufman RL, Kissane J (1974): A 46, XY infant with uterus, dysgenetic gonads and multiple anomalies. Humangenetik 25: 65–68. Opitz JM, Zeliweger H, Shannon WR, Ptacek LJ (1969): The RSH syndrome. In D Bergsma (ed): “ The First Conference on The Clinical Delineation of Birth Defects. Part II: Malformation Syndromes.” New York: The National Foundation March of Dimes BD:OAS V (2): 43–52. Citing Literature Volume28, Issue3November 1987Pages 719-721 ReferencesRelatedInformation
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