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Genetic Evaluation of Short Stature - Mira Irons MD
Genetic Evaluation of Short Stature  
Mira Irons MD
2010 SERGG Annual Meeting
University of Florida Health
Pediatric Specialties
Tallahassee, FL  
July 23rd, 2010

About the Presentation
Dr. Irons presents at the 2010 SERGG Annual Meeting

Selected Publications by the Presenter
1.    Irons M, Levy HL, Pueschel S, Castree K:  The accumulation of galactose I phosphate in the     galactosemic fetus despite milk avoidance.  J. Pediatr, 1985;107:261 263.

2.    Irons M, Levy HL, O'Flynn ME, Stack CV, Langlais PJ, Butler IJ, Milstien S, Kaufman S:  Folinic acid therapy in the treatment of dihydropteridine reductase deficiency.  J. Pediatr, 1987;110:61 67.

3.    Lockwood C, Irons M, Troiani J, Kawada C, Chaudhury A, Cetrulo C:  The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: A heritable cause of recurrent abortion.  Am J Obstet Gynecol 1988;159:474 476.

4.    Thayer B, Braddock B, Spitzer K, Irons M, Miller W, Bailey I, Rosenbaum B, Blatt RJ: Development of a peer support system in those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality.  Birth Defects Original Artic Ser, 1990;26:149 156.

5.    Irons M, Elias ER, Salen G, Tint GS, Batta AK:  Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.  Lancet, 1993;341:1414.

6.    Irons M: Screening for metabolic disorders. How are we doing  Ped Clin North Am 1993;40:1073-1085.

7.    Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.  New Engl J Med, 1994;330:107-113.

8.    Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M: Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report on clinical and biochemical findings in 4 patients and treatment in 1 patient.  Am J Med Genet 1994;50:347-352.

9.    Abuelo DN, Canick JA, Kelley RI, Irons M, Tint GS, Salen G, Batta AK: Prenatal diagnosis of the Smith-Lemli-Opitz syndrome by detection of the cholesterol biosynthetic defect in amniotic fluid.  Am J Med Genet 1994; 50:333-334.

10.    Batta AK, Tint GS, Salen G, Shefer S, Irons M, Elias ER: Identification of 7-dehydrocholesterol and related sterols in patients with Smith-Lemli-Opitz syndrome.  Am J Med Genet 1994;50:334.

11.    Shefer S, Salen G, Batta AK, Tint GS, Irons M, Elias ER: Reduced 7-dehydro-cholesterol-delta7-             reductase activity in Smith-Lemli-Opitz syndrome. Am J Med Genet 1994;50:336.

12.    Irons M, Elias ER, Abuelo D, Tint GS, Salen G:  Clinical features of the Smith-Lemli-Opitz                         syndrome and treatment of the cholesterol metabolic defect. Internat Peds 1995;10:1-5.

13.    Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R:  Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.  J Pediatr 1995; 127:82-87.

14.    Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF:  Markedly inhibited 7-dehydrocholesterol-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 1995;96:1779-1785.

15.    Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer S, Genest D, Irons M, Elias E, Salen G:  Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.  J Lipid Rsh, 1995; 36:89-95.

16.        Salen G, Tint GS, Xu G, Batta AK, Irons M, Elias ER: Abnormal cholesterol biosynthesis in the          Smith-Lemli-Opitz syndrome.  Ital J Gastroenterol, 1995;27:506-508.

17.         Irons M, Bianchi DW, Geggel RL, Marx GR, Bhan I:  Possible new autosomal recessive  
syndrome consisting of congenital lymphedema of the lower extremities, hydroceles, atrial septal defect, and characteristic facies.  Am J Med Genet, 1996;66:69-71.

18.    Salen G, Shefer S. Batta AK, Tint GS, Xu G, Honda A, Irons M, Elias ER:  Abnormal cholesterol     biosynthesis in the Smith-Lemli-Opitz syndrome.  J Lipid Rsh, 1996; 37:1169-1180.

19.    Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS,
            Salen G:  Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.  Am J Med    
           Genet, 1997;68:311-314.

20.     Elias ER, Irons MB, Hurley AD, Tint GS, Salen G: Clinical effects of cholesterol                           supplementation in six patients with the Smith-Lemli-Opitz syndrome.  Am J Med Genet, 1997;     68:305-310.

21.         Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG,    Brunner HG, vanderBurgt I, Chitayat D, McGaughran J, Donnai D, Lyyten FP, Warman ML.       Mutations in CDMP1 cause autosomal dominant brachydactyly, type C.  Nature Genetics,          1997;17:18-19.

22.    Tint GS, Batta AK, Xu G, Shefer S, Honda A, Irons M, Elias ER, Salen G. The Smith-Lemli-Opitz syndrome: A potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. Subcell Biochem 1997:28:117-144.

23.    Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M,
    Emanuel BS, Markowitz RI, Zackai EH. Skeletal anomalies and deformities in patients
    with deletions of 22q11. Am J Med Genet 1997:72:210-215.

24.    Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons                     M, Elias ER, Salen G.  Fetal Smith-Lemli-Opitz syndrome can be detected accurately and                        reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn 1998:18:651-658                              

25.    Irons MB and Tint GS:  Prenatal Diagnosis of Smith-Lemli-Opitz syndrome. Prenal Diagn, 1998;             18: 369-372.

26.    Stewart TL, Irons MB, Cowan JM, Bianchi DW:  Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology 1999:59:20-22.

27.    Bradley LA, Palomaki GE, Knight GJ, Haddow JE, Opitz JM, Irons M, Kelley RI, Tint GS. Levels              of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-                    Opitz (RSH) syndrome fetuses. Am J Med Genet, 1999:82:355-358.

28.    Irons MB, Nores J, Stewart TL, Craigo SD, Bianchi DW, D’Alton ME, Tint GS, Salen G,                             Bradley LA. Antenatal therapy of Smith-Lemli-Opitz syndrome. Fetal Diagn Ther                                        1999:14:133-137.

29.    Hsich GE, Robertson RL, Irons M, Soul JS, duPlessis AJ. Cerebral infarction in Menkes’ Disease.  Pediatr Neurol, 2000, 23: 425-8.

30.    Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJG. Utility of hemodialysis in maple syrup urine disease, Pediatr Nephrol, 2002, 17:239-242.

31.    Albers S, Marsden D, Quackenbush E, Stark A, Irons M. Early detection of neonatal carnitine palmitoytransferase II deficiency by expanded newborn screening with tandem mass spectrometry,  Pediatrics, 2001: 107: E103.

32.    Williard DE, Nwankwo JO, Kaduce TL, Harmon SD, Irons M, Moser HW, Raymond GV, Spector    AA. Identification of a fatty acid delta-6-desaturase deficiency in human skin fibroblasts.  J Lipid Rsh, 2001; 42: 501-508.

33.    Albers S,  Levy, HL, Irons M, Strauss A, Marsden D. Compound heterozygosity in four asymptomatic siblings with medium chain acyl-CoA-dehydrogenase deficiency. J
    Inherit Metab Dis, 2001: 24: 417-418.

34.    Brocks D, Irons M, Sadeghi-Nejad A, McCauley R, Wheeler PG.  Gomez-Lopez-Hernandez         syndrome: expansion of the phenotype.  Am J Med Genet, 2000: 94: 405-408.

35.     Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint SG.   Spectrum of 7-                dehydrocholesterol reductase mutations in patients with the Smith–Lemli–Opitz (RSH) syndrome.  Hum Mol Genet. 2000; 9: 1385-1391.

36.    Lee C, Murray MF, Miron PM, Marsden D, Irons M, Wilkins-Huag LE, Morton CC. Clinical Picture.           Multicolour Karyotyping. Lancet, 2001; 357:1240.

37.    Lin AE, Grosfeld PD, Hamilton R, Smoot L, Gripp K, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI, Nicholson L.  Further delineation of cardiac abnormalities in Costello Syndrome.  Am J Med Genet, 2002: 111: 115-129.

38.    Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med, 2002: 4: 279-288.

30.     Lin AE, Terry SF, Lerner B, Anderson R, Irons M. Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet 2003; 119A: 89-92.

40.      Wu BL, Kenna M, Lip V, Irons M, Platt O. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet 2003; 121A: 102-108.

41.  Toriello HV, Carey JC, Addor MC, Allen W. Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. Am J Med Genet 2003; 123A: 84-90.

42.    Mueller C, Patel S, Irons M, Antshel K, Salen G, Tint GS, Bay C. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. Am J Med Genet 2003; 123A: 100-106.

43.    Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. MRI and (1)MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology ,2004: 46: 3-14.

44.  Irons M. Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis. Curr Opin Pediatr, 2003; 15: 594-597.

45.  Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol 2003; 121: 1738-43

46.  Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Russell K, Kaur M, Rossi E, Tenconi R, Nordenskjold M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OWJ, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID.  Subtelomeric 9q syndrome.. Am J. Med Genet 2004; 128A: 340-351..

47.    Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Subtelomeric FISH testing: Are we casting a wide enough net? Thirteen cases and a review of the literature.  Am J Med Genet 2004: 128A:352-363.

48.   Roberts AE, Listewnik M, Irons MB, Mulliken JB, Morton CC, Kimonis VE, Lee C. Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: A high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet, 2004: 130;204-207

49.  Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo P-L, Sue W-C, Sheffield L, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet, 2005: 13:528-540.

50.   Alkuraya FS, Lin AE, Irons MB, Kimonis VE. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet, 2005: 132:226-230.

51.    Rahbar R, Litrovnik BG, Vargas SO, Robson CD, Nuss RC, Irons MB, McGill TJ, Healy GB. The biology and management of laryngeal neurofibroma  2004; Archives of Otolaryngology: Head and Neck Surgery, 2004: 130;1400-1406

52.    Alkuraya FA, Picker J, Irons MB, Kimonis VE. Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work? Birth Defects Res A Clin Mol Teratol, 2005: 73:569-571.

53.    Baris H, Bejjani BA, Tan W-H, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE. Identification of a novel polymorphism-the duplication of the NPHP1 (Nephronophthisis1) Gene. Am J. Med Genet Part A, 2006: 140A:1876-1879.

54.    del Gaudio D, Fang P, Scaglia F, Ward P, Craigen W, Glaze D, Neul J, Patel A, Lee JA, Irons M, Berry S, Pursley A, Grebe T, Freedenberg D, Martin R, Hsich G, Khera J, Friedman N, Zoghbi HY, Eng CM, Lupski JR, Beaudet A, Cheung SW, Roa BB. Increased MECP2 gene copy number due to genomic duplication in neurodevelopmentally delayed males. Genet Med, 2006: 8:784-792.

55.    Craig WY, Haddow JE, Palomaki GE, Kelley RI, Kratz LE, Shackleton CH, Marcos J, Stephen Tint G, MacRae AR, Nowaczyk MJ, Kloza EM, Irons MB, Roberson M. Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn, 2006:26:842-849.

56.    Lawson-Yuen A, Berend SA, Soul JS, Irons M. Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol. 2006:15:217-20. Review

57.    Tan W-H, Baris H, Burrows PE, Robson CD, Alomari AI, Mulliken JB, Fishman SJ, Irons MB. The spectrum of vascular anomalies in patients with PTEN mutations:  Implications for diagnosis and management.  J Med Genet. 2007: 44:594-602. [Epub 2007 May 25]

58.    Baris H, Tan, W-H, Kimonis VE, Irons MB. Diagnostic utility of array-based comparative genomic hybridization in a clinical setting, 2007, Am J Med Genet A 2007: 143:2523-33.

59.    Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH.  A new craniosynostosis syndrome with featues of Aarskog-Scott and Teebi syndromes. Am J Med Genet A, 2007, Jun 15;143:1282-6.

60.    Ullrich NJ, Raja A, Kieran MW, Irons MB, Goumnerova L. Brainstem lesions in children with Neurofibromatosis type 1. Neurosurgery 2007:61:762-6.

61.    Shen Y., Irons M. Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007:53:2051-9.

62.    Irons M. The Genetics Clinic: Where does the time go? Genet Med. 2008:10:657-8.

63.    Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009:84:307-15.

64.    Seaver LH, Irons M, American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee. ACMG practice guideline: genetic evaluation of short stature. Genet Med. 2009:6:465-70.

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