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Syndromes/Associations

  • Stephanie Potts
  • Robert Carachi
Chapter
  • 21 Downloads

Abstract

This chapter consists of 30 conditions, many of which are already described in previous chapters. Its purpose is to highlight the syndromes and associations seen in congenital malformations. Each condition has a few references that allow for further reading. Most of the conditions described include clinical figures.

Keywords

Syndromes Associations Genetic Malformations Pentalogy Sequence 

References

  1. 1.
    Jones KL, editor. Smith’s recognizable patterns of human malformation. 6th ed. Philadelphia, PA: Elsevier Saunders; 2006.Google Scholar
  2. 2.
    Ko JM. Genetic syndromes associated with overgrowth in childhood. Ann Pediatr Endocrinol Metab. 2013;18(3):101–5.PubMedPubMedCentralCrossRefGoogle Scholar
  3. 3.
    Pappas JG. The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome. Curr Probl Pediatr Adolesc Health Care. 2015;45(4):112–7.PubMedCrossRefGoogle Scholar
  4. 4.
    Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, et al. Apert syndrome: what prenatal radiographic findings should prompt its consideration? Prenat Diagn. 2006;26(10):966–72.PubMedCrossRefGoogle Scholar
  5. 5.
    Scully C, Langdon J, Evans J. Marathon of eponyms: 3 Crouzon syndrome. Oral Dis. 2009;15(5):367–8.PubMedCrossRefGoogle Scholar
  6. 6.
    Kusters E, Kerkhoffs JL, van Rossum AP. Thalassaemia diagnostics. Ned Tijdschr Geneeskd. 2014;158:A7988.PubMedGoogle Scholar
  7. 7.
    Wong P, Fuller PJ, Gillespie MT, Kartsogiannis V, Strauss BJ, Bowden D, et al. Thalassemia bone disease: the association between nephrolithiasis, bone mineral density and fractures. Osteoporos Int. 2013;24(7):1965–71.PubMedCrossRefGoogle Scholar
  8. 8.
    Yee H, Mra R, Nyunt KM. Cardiac abnormalities in the thalassaemia syndromes. Southeast Asian J Trop Med Public Health. 1984;15(3):414–21.PubMedGoogle Scholar
  9. 9.
    Gonzalez GE, Caruso PA, Small JE, Jyung RW, Troulis MJ, Curtin HD. Craniofacial and temporal bone CT findings in cleidocranial dysplasia. Pediatr Radiol. 2008;38(8):892–7.PubMedCrossRefGoogle Scholar
  10. 10.
    Tan TY, Kilpatrick N, Farlie PG. Developmental and genetic perspectives on Pierre Robin sequence. Am J Med Genet C Semin Med Genet. 2013;163C(4):295–305.PubMedCrossRefGoogle Scholar
  11. 11.
    Tse JY, Wu S, Shinagare SA, Lauwers GY, Yilmaz O, Wu CL, et al. Peutz-Jeghers syndrome: a critical look at colonic Peutz-Jeghers polyps. Mod Pathol. 2013;26(9):1235–40.PubMedCrossRefGoogle Scholar
  12. 12.
    Yiyit N, Işıtmangil T, Öksüz S. Clinical analysis of 113 patients with Poland syndrome. Ann Thorac Surg. 2015;99(3):999–1004.PubMedCrossRefGoogle Scholar
  13. 13.
    Moir CR, Johnson CH. Poland’s syndrome. Semin Pediatr Surg. 2008;17(3):161–6.PubMedCrossRefGoogle Scholar
  14. 14.
    Pirasteh A, Carcano C, Kirsch J, T-LH M. Pentalogy of cantrell with ectopia cordis: CT findings. J Radiol Case Rep. 2014;8(12):29–34.PubMedPubMedCentralGoogle Scholar
  15. 15.
    Sharma R, Seth A. Congenital adrenal hyperplasia: issues in diagnosis and treatment in children. Indian J Pediatr. 2014;81(2):178–85.PubMedCrossRefGoogle Scholar
  16. 16.
    Marumudi E, Khadgawat R, Surana V, Shabir I, Joseph A, Ammini AC. Diagnosis and management of classical congenital adrenal hyperplasia. Steroids. 2013;78(8):741–6.PubMedCrossRefGoogle Scholar
  17. 17.
    Sreekar H, Dawre S, Petkar KS, Shetty RB, Lamba S, Naik S, et al. Diverse manifestations and management options in Klippel-Trenaunay syndrome: a single centre 10-year experience. J Plast Surg Hand Surg. 2013;47(4):303–7.PubMedCrossRefGoogle Scholar
  18. 18.
    Radke RM, Baumgartner H. Diagnosis and treatment of Marfan syndrome: an update. Heart. 2014;100(17):1382–91.PubMedCrossRefGoogle Scholar
  19. 19.
    Köchling J, Pistor G, Märzhäuser Brands S, Nasir R, Lanksch WR. The Currarino syndrome—hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature. Eur J Pediatr Surg. 1996;6(2):114–9.PubMedCrossRefGoogle Scholar
  20. 20.
    Low G, Irwin GJ, Haddock G, Maroo SV. Currarino triad: characteristic appearances on magnetic resonance imaging and plain radiography. Austr Radiol. 2006;50(3):249–51.CrossRefGoogle Scholar
  21. 21.
    Whitehead MT, Nagaraj UD, Pearl PL. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015;45(8):1198–205.PubMedCrossRefGoogle Scholar
  22. 22.
    Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Cornelia de Lange syndrome. Clin Genet. 2015;88(1):1–12.PubMedCrossRefGoogle Scholar
  23. 23.
    Byon M, Kim GJ. Prune-belly syndrome detected by ultrasound in the first trimester and the usefulness of vesicocentesis as a modality of treatment. Obstet Gynecol Sci. 2013;56(4):265–8.PubMedPubMedCentralCrossRefGoogle Scholar
  24. 24.
    Tonni G, Ida V, Alessandro V, Bonasoni MP. Prune-Belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis. Fetal Pediatr Pathol. 2013;31(1):13–24.PubMedCrossRefGoogle Scholar
  25. 25.
    Walls GV. Multiple endocrine neoplasia (MEN) syndromes. Semin Pediatr Surg. 2014;23(2):96–101.PubMedCrossRefGoogle Scholar
  26. 26.
    Mettin RR, Merkenschlager A, Bernhard MK, Elix H, Hirsch W, Kiess W, et al. Wide spectrum of clinical manifestations in children with tuberous sclerosis complex—follow-up of 20 children. Brain Dev. 2014;36(4):306–14.PubMedCrossRefGoogle Scholar
  27. 27.
    Dicker D, Samuel N, Feldberg D, Goldman JA. The antenatal diagnosis of Potter syndrome (Potter sequence). A lethal and not-so-rare malformation. Eur J Obstet Gynecol Reprod Biol. 1984;18(1–2):17–24.PubMedCrossRefGoogle Scholar
  28. 28.
    Keirse MJ, Meerman RH. Antenatal diagnosis of Potter syndrome. Obstet Gynecol. 1978;52(1 Suppl):64S–7S.PubMedGoogle Scholar
  29. 29.
    Cunningham BK, Hadley DW, Hannoush H, Meltzer AC, Niforatos N, Pineda-Alvarez D, et al. Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 2013;97(12):792–7.PubMedCrossRefGoogle Scholar
  30. 30.
    Cunningham BK, Khromykh A, Martinez AF, Carney T, Hadley DW, Solomon BD. Analysis of renal anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 2014;100(10):801–5.PubMedPubMedCentralCrossRefGoogle Scholar
  31. 31.
    Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, et al. CHARGE syndrome: a review. J Paediatr Child Health. 2014;50(7):504–11.PubMedCrossRefGoogle Scholar
  32. 32.
    Sudarsanam A, Ardern-Holmes SL. Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol. 2014;18(3):257–66.PubMedCrossRefGoogle Scholar
  33. 33.
    Tuysuz B, Kartal N, Erener-Ercan T, Guclu-Geyik F, Vural M, Perk Y, et al. Prevalence of Prader-Willi syndrome among infants with hypotonia. J Pediatr. 2014;164(5):1064–7.PubMedCrossRefGoogle Scholar
  34. 34.
    Marsaud C, Rossignol S, Tounian P, Netchine I, Dubern B. Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome. Arch Dis Child. 2015;100(4):353–8.PubMedCrossRefGoogle Scholar
  35. 35.
    SNK V, Balagopal RV. Clinical spectrum of Silver-Russell syndrome. Contemp Clin Dent. 2013;4(3):363–5.CrossRefGoogle Scholar
  36. 36.
    Mahmoudi A, Rami M, Khattala K, Elmadi A, Afifi MA, Youssef B. Shah-Waardenburg syndrome. Pan Afr Med J. 2013;14:60.PubMedPubMedCentralGoogle Scholar
  37. 37.
    Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith-Lemli-Opitz syndrome. Expert Opin Orphan Drugs. 2015;3(3):267–80.PubMedPubMedCentralCrossRefGoogle Scholar
  38. 38.
    Lee RW, Conley SK, Gropman A, Porter FD, Baker EH. Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2013;161A(10):2407–19.PubMedGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Stephanie Potts
    • 1
  • Robert Carachi
    • 1
  1. 1.Surgical PaediatricsUniversity of GlasgowGlasgowUK

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