Benvenuto nella sezione online di

La Pediatria di Netter, 2ª ed.

Letture Consigliate

Sezione X

Patologie Genetiche e Metaboliche

Sanmati Rao Cuddapah︎

Jessica R.C. Priestley e Rebecca C. Ahrens-Nicklas

  • ACMG Secondary Findings, , Kalia S.S, Adelman K, Bale S.J, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics [published correction appears in Genet Med. 2017;19(4):484]. Genet Med . 2017;19(2):249–255.
  • McCandless S.E, Wright E.J. Mandatory newborn screening in the United States: history, current status, and existential challenges. Birth Defects Res . 2020;112(4):350–366.
  • Miller D.T, Adam M.P, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet . 2010;86(5):749–764.
  • Newborn screening: toward a uniform screening panel and system. Genet Med. 2006;8(suppl 1):1S–252S.
  • Nguengang Wakap S, Lambert D.M, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet . 2020;28:165–173.
  • Wojcik M.H, Reimers R, Poorvu T, Agrawal P.B. Genetic diagnosis in the fetus. J Perinatol . 2020;40(7):997–1006.

Steven D. Klein e Jennifer M. Kalish

  • Mikwar M, MacFarlane A.J, Marchetti F. Mechanisms of oocyte aneuploidy associated with advanced maternal age. Mutat Res . 2020;785:108320.
  • Shaffer B.L, Norton M.E. Cell-Free DNA screening for aneuploidy and microdeletion syndromes. Obstet Gynecol Clin North Am . 2018;45(1):13–26.
  • Harris S, Reed D, Vora N.L. Screening for fetal chromosomal and subchromosomal disorders. Semin Fetal Neonatal Med . 2018;23(2):85–93.
  • Allanson J.E, Biesecker L.G, Carey J.C, Hennekam R.C.M. Elements of morphology: introduction. Am J Med Genet A . 2009;149A(1):2–5.
  • Muenke M, Adeyemo A, Kruszka P. An electronic atlas of human malformation syndromes in diverse populations. Genet Med . 2016;18(11):1085–1087.

Linh Thi Tran e Rose Guo

  • Bacino C.A. Birth defects: Epidemiology, Types and Patterns . UpToDate; 2020.
  • Bacino C.A. Birth Defects: Causes . UpToDate; 2020.
  • Beloosesky R, Ross M.G. Oligohydramnios: Etiology, Diagnosis, and Management . UpToDate; 2020.
  • Blake K.D, Prasad C. CHARGE syndrome. Orphanet Journal of Rare Diseases . 2006;1:34.
  • Bodamer O.A. Amniotic band sequence. UpToDate . 2020.
  • Buchanan E.P. Syndromes With Craniofacial Abnormalities . UpToDate; 2020.
  • Chan Y.M, Levitsky L.L. Evaluation of the Infant With Atypical Genitalia (Disorder of Sex Development) . UpToDate; 2020.
  • Ciurea A.V, Toader C. Genetics of craniosynostosis: review of the literature. J Med Life . 2009.
  • Firth H.V, et al. Oxford Desk Reference Clinical Genetics . New York: Oxford University Press; 2010:256–257.
  • Hon-Yin B.C, et al. Beckwith-Wiedemann Syndrome . UptoDate; 2020.
  • Houk C.P, et al. Management of the Infant With Atypical Genitalia (Disorder of Sexual Development) . UpToDate; 2020.
  • Isaacson G.C. Congenital Anomalies of the Jaw, Mouth, Oral Cavity, and Pharynx . UpToDate; 2020.
  • Jones K.L, et al. Smith’s Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:310–341 346, 428-429.
  • Niaudet P. Renal Hypodysplasia . UpToDate; 2020.
  • Ozcan T. Renal agenesis: prenatal diagnosis . UpToDate; 2020.
  • Peter J.H. Next-generation DNA sequencing (NGS): Principles and clinical applications . UpToDate; 2020.
  • Zitelli, et al. “Nephrology”. In: Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis . 7th ed. Philadelphia, PA: Saunders/Elsevier; 2017:510–539.

Katherine M. Szigety e Sarah E. Sheppard

  • Borch L.A, Parboosingh J, Thomas M.A, et al. Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders. Genet Med . 2020;22:1036–1039. doi: 10.1038/s41436-020-0773-x.
  • de Ligt J, Willemsen M.H, van Bon B.W, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med . 2012;367(20):1921–1929. doi: 10.1056/NEJMoa1206524.
  • Hull L.E., Gold N.B., Armstrong K.A.. Revisiting the roles of primary care clinicians in genetic medicine. JAMA. 2020. PubMed PMID: 32970138. Epub ahead of print.
  • Malinowski J, Miller D.T, Demmer L, et al. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med . 2020;22(6):986–1004. doi: 10.1038/s41436-020-0771-z.
  • Manickam K., McClain MR, Demmer L.A, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:2029–2037.
  • Moeschler J.B, Shevell M, Committee on Genetics, . Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics . 2014;134(3):e903–e918. doi: 10.1542/peds.2014-1839.
  • Monaghan K.G, Lyon E, Spector E.B. American college of medical genetics and genomics. ACMG standards and guidelines for fragile X testing: a revision to the disease-specific supplements to the standards and guidelines for clinical genetics laboratories of the American College of Medical Genetics and Genomics. Genet Med . 2013;15(7):575–586. doi: 10.1038/gim.2013.61.
  • Srivastava S, Love-Nichols J.A, Dies K.A, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med . 2019;21:2413–2421. doi: 10.1038/s41436-019-0554-6.
  • Waggoner D, Wain K.E, Dubuc A.M, et al. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med . 2018;20(10):1105–1113. doi: 10.1038/s41436-018-0040-6.
  • Zablotsky B, Black L.I, Maenner M.J, et al. Prevalence and trends of developmental disabilities among children in the United States: 2009-2017. Pediatrics . 2019;144(4):e20190811. doi: 10.1542/peds.2019-0811.

Michaela B. Reinhart e Staci Kallish

  • Loeys B, et al. The revised ghent nosology for the marfan syndrome.. J Med Genet . 2010;47:476–485.
  • Morgant M.C, El-Hamamsy I. Connective tissue disorders. In: Vojacek J, Zacek P, Dominik J, eds. Aortic Regurgitation . Cham: Springer; 2018 doi: 10.1007/978-3-319-74213-7_9.
  • Pauli R.M. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis . 2019;14:1.
  • Tinkle B, et al. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type): clinical description and natural history. Am J Med Genet . 2017;175:48–69.

Jessica R.C. Priestley e Hana Alharbi

  • Demirbas D, Coelho A.I, Rubio-Gozalbo M.E, Berry G.T. Hereditary galactosemia. Metabolism . 2018;83:188–196.
  • Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019;42:1192–1230.
  • Kölker S, Garcia-Cazorla A, Valayannopoulos V, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis . 2015;38(6):1041–1057.
  • Kölker S, Valayannopoulos V, Burlina A.B, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis . 2015;38(6):1059–1074.
  • Saudubray J.M, Mochel F, Lamari F, Garcia-Cazorla A. Proposal for a simplified classification of IMD based on a pathophysiological approach: a practical guide for clinicians. J Inherit Metab Dis . 2019;42(4):706–727.
  • Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet Part C Semin Med Genet. 2006;142C:95–103.

Michaela B. Reinhart e Jessica I. Gold

  • Chang I, et al. Congenital disorders of glycosylation. Ann Transl Med . 2018;6(24):477.
  • Ferreira C.R, Gahl W.A. Lysosomal storage diseases. Transl Sci Rare Dis . 2017;2(1-2):1–71.
  • Scott C, Olpin S. Peroxisomal disorders. Paediatr Child Health . 2015;25(3):119–122.

Margaret Means e Edward C. Shadiack III

  • Barcelos I, Shadiack E, Ganetzky R, Falk M. Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines. Curr Opin Pediatr . 2020;32(6):707–718.
  • De Vries M.C, Brown D.A, Allen M.E, et al. Safety of drug use in patients with a primary mitochondrial disease: an international Delphi-based consensus. J Inherit Metab Dis . 2020;43(4):800–818.
  • Gorman G, Chinnery P, DiMauro S, et al. Mitochondrial diseases. Nat Rev Dis Primers . 2016;2:16080.
  • Haas R.H, Parikh S, Falk M.J, et al. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics . 2007;120:1326–1333.
  • Muraresku C.C, McCormick E.M, Falk M.J. Mitochondrial disease: advances in clinical diagnosis, management, therapeutic development, and preventative strategies. Curr Genet Med Rep . 2018;6(2):62–72.
  • Parikh S, Goldstein A, Karaa A, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med . 2017;19(12).
  • Parikh S, Goldstein A, Koenig M.K, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med . 2015;17(9):689–701.
  • Rahman J, Rahman S. Mitochondrial medicine in the omics era. Lancet . 2018;391(10139):2560–2574.
  • Mitochondrial Medicine Society.
  • Mitochondrial Disease Sequence Data Resource Consortium:
  • MITOMAP: A human mitochondrial genome database: