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Congenital Malformation Syndromes

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Textbook of Clinical Pediatrics

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The birth of a child with single or multiple congenital anomalies is a source of stress for the family and the healthcare team, even in the presence of a known family history of the condition or of prenatal diagnosis. Identifying the correct etiology is relevant to plan for appropriate interventions, to search for possible associated abnormalities, to establish a prognosis, and to predict recurrence risk. This chapter summarizes the clinical evaluation of the child with congenital anomalies in the context of a syndrome, defined as a recognizable pattern of abnormalities that share a common underlying etiology. Approaches to common clinical problems with a brief depiction of some relatively frequent syndromes are included. Several thousand syndromes have been recognized and their individual description is beyond the scope of this section. References to specialized textbooks or databases have been incorporated for further reading.

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References

  • American Academy of Pediatrics (2001a) Health supervision for children with Down syndrome. Pediatrics 107:442–449

    Article  Google Scholar 

  • American Academy of Pediatrics (2001b) Health care supervision for children with Williams syndrome. Pediatrics 107:1192–1204

    Article  Google Scholar 

  • American Academy of Pediatrics Committee on Genetics (1996a) Health supervision for children with Marfan syndrome. Pediatrics 98:978–982

    Google Scholar 

  • American Academy of Pediatrics Committee on Genetics (1996b) Health supervision for children with fragile X syndrome. Pediatrics 98:297–300

    Google Scholar 

  • American College of Medical Genetics (1999) Evaluation of the newborn with single or multiple congenital anomalies. http://www.health.state.ny.us/nysdoh/dpprd/index.htm

  • Bankier A (2008) POSSUM web: pictures of standard syndromes and undiagnosed malformation. Murdoch Childrens Research Institute Royal Children’s Hospital, Victoria, Australia

    Google Scholar 

  • Baraitser M, Winter R (2006) Winter-Baraitser dysmorphology database (WBDD). London Medical Databases, London

    Google Scholar 

  • Bennett RL, French KS, Resta RG et al (2008) Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 17:424–433

    Article  PubMed  Google Scholar 

  • Botto LD, Robert-Gnansia E, Siffel C et al (2006) Fostering international collaboration in birth defects research and prevention: a perspective from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Public Health 96:774–780

    Article  PubMed  Google Scholar 

  • Brooke BS, Habashi JP, Judge DP et al (2008) Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med 358:2787–2795

    Article  PubMed  CAS  Google Scholar 

  • Cassidy S, Allanson J (2005) Management of genetic syndromes, 2nd edn. Wiley, Hoboken, NJ

    Book  Google Scholar 

  • Castilla EE, Orioli IM (2004) ECLAMC: the Latin-American collaborative study of congenital malformations. Community Genet 7:76–94

    Article  PubMed  Google Scholar 

  • Ekure EN, Animashaun A, Bastos M et al (2009) Congenital heart diseases associated with identified syndromes and other extra-cardiac congenital malformations in children in Lagos. West Afr J Med 28:33–37

    PubMed  CAS  Google Scholar 

  • Epstein CJ (2004) Human malformations and their genetic basis. In: Epstein CJ, Erickson RP, Wynshaw-Boris A (eds) Inborn errors of development: the molecular basis of clinical disorders of morphogenesis. Oxford University Press, New York

    Google Scholar 

  • Evans AK, Rahbar R, Rogers GF et al (2006) Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol 70:973–980

    Article  PubMed  Google Scholar 

  • Frias JL, Davenport ML (2003) Health supervision for children with Turner syndrome. Pediatrics 111:692–702

    Article  PubMed  Google Scholar 

  • Gattas MR, MacMillan JC, Meinecke I et al (2001) Telemedicine and clinical genetics: establishing a successful service. J Telemed Telecare 7(Suppl 2):68–70

    Article  PubMed  Google Scholar 

  • Gorlin RJ, Cohen MMJ, Hennekam RCM (2001) Syndromes of the head and neck. Oxford University Press, New York

    Google Scholar 

  • Grote FK, Oostdijk W, De Muinck Keizer-Schrama SM et al (2008) The diagnostic work up of growth failure in secondary health care; an evaluation of consensus guidelines. BMC Pediatr 8:21–30

    Article  PubMed  Google Scholar 

  • Gunay-Aygun M, Schwartz S, Heeger S et al (2001) The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108:E92

    Article  PubMed  CAS  Google Scholar 

  • Hall JG, Allanson JE, Gripp KW et al (2007) Handbook of physical measurements. Oxford University Press, New York

    Google Scholar 

  • Harper PS (2004) Practical genetic counselling, 6th edn. Hodder Arnold, London

    Google Scholar 

  • Hersh JH (2008) Health supervision for children with neurofibromatosis. Pediatrics 121:633–642

    Article  PubMed  Google Scholar 

  • Hunter AG (2002) Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs. Can Med Assoc J 167:367–372

    Google Scholar 

  • Irons M, Elias ER, Tint GS et al (1994) Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 50:347–352

    Article  PubMed  CAS  Google Scholar 

  • Jones K (2006) Smith’s recognizable patterns of human malformation. Elsevier, Philadelphia, PA

    Google Scholar 

  • Lam WF, Hau WL, Lam TS (2002) Evaluation of referrals for genetic investigation of short stature in Hong Kong. Chin Med J 115:607–611

    PubMed  Google Scholar 

  • Lansford M (2008) Focus on the physical assessment of the infant with Stickler syndrome. Adv Neonatal Care 8:308–314

    Article  PubMed  Google Scholar 

  • Leppig KA, Werler MM, Cann CI et al (1987) Predictive value of minor anomalies. I. Association with major malformations. J Pediatr 110:531–537

    Article  PubMed  CAS  Google Scholar 

  • Lu X, Shaw CA, Patel A et al (2007) Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2:e327

    Article  PubMed  Google Scholar 

  • Lu XY, Phung MT, Shaw CA et al (2008) Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 122:1310–1318

    Article  PubMed  Google Scholar 

  • Malone FD, Canick JA, Ball RH et al (2005) First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 353:2001–2011

    Article  PubMed  CAS  Google Scholar 

  • March of Dimes Perinatal Data Center (2009) http://www.marchofdimes.com/peristats/

  • Marden PM, Smith DW, McDonald MJ (1964) Congenital anomalies in the newborn infant, including minor variations. a study of 4, 412 babies by surface examination for anomalies and buccal smear for sex chromatin. J Pediatr 64:357–371

    Article  PubMed  CAS  Google Scholar 

  • Mathews TJ, MacDorman MF (2008) Infant mortality statistics from the 2005 period linked birth/infant death data set. Natl Vital Stat Rep 57:1–32

    PubMed  CAS  Google Scholar 

  • McCandless SE, Brunger JW, Cassidy SB (2004) The burden of genetic disease on inpatient care in a children’s hospital. Am J Hum Genet 74:121–127

    Article  PubMed  CAS  Google Scholar 

  • Noonan JA (2006) Noonan syndrome and related disorders: alterations in growth and puberty. Rev Endocr Metab Disord 7:251–255

    Article  PubMed  CAS  Google Scholar 

  • O’Malley M, Hutcheon RG (2007) Genetic disorders and congenital malformations in pediatric long-term care. J Am Med Dir Assoc 8:332–334

    Article  PubMed  Google Scholar 

  • International Clearinghouse for Birth Defects Surveillance and Research Annual (2007) Report 2007 – with data for 2005. http://www.icbdsr.org/filebank/documents/ar2005/Report2007.pdf

  • Rosano A, Smithells D, Cacciani L et al (1999) Time trends in neural tube defects prevalence in relation to preventive strategies: an international study. J Epidemiol Community Health 53:630–635

    Article  PubMed  CAS  Google Scholar 

  • Rosano A, Botto LD, Botting B et al (2000) Infant mortality and congenital anomalies from 1950 to 1994: an international perspective. J Epidemiol Community Health 54:660–666

    Article  PubMed  CAS  Google Scholar 

  • Seaver LH, Irons M (2009) ACMG practice guideline: genetic evaluation of short stature. Genet Med 11:465–470

    Article  PubMed  Google Scholar 

  • Shaw J (2008) Trisomy 18: a case study. Neonatal Netw 27:33–41

    Article  PubMed  Google Scholar 

  • Shevell MI, Matthews PM, Scriver CR et al (1994) Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. Pediatr Neurol 11:224–229

    Article  PubMed  CAS  Google Scholar 

  • Shores J, Berger KR, Murphy EA et al (1994) Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan’s syndrome. N Engl J Med 330:1335–1341

    Article  PubMed  CAS  Google Scholar 

  • Shprintzen RJ, Higgins AM, Antshel K et al (2005) Velo-cardio-facial syndrome. Curr Opin Pediatr 17:725–730

    Article  PubMed  Google Scholar 

  • Stalker HJ, Wilson R, McCune H et al (2006) Telegenetic medicine: improved access to services in an underserved area. J Telemed Telecare 12:182–185

    Article  PubMed  CAS  Google Scholar 

  • Stevenson DA, Carey JC (2004) Contribution of malformations and genetic disorders to mortality in a children’s hospital. Am J Med Genet A 126:393–397

    Article  Google Scholar 

  • Tint GS, Irons M, Elias ER et al (1994) Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330:107–113

    Article  PubMed  CAS  Google Scholar 

  • Trotter TL, Hall JG (2005) Health supervision for children with achondroplasia. Pediatrics 116:771–783

    Article  PubMed  Google Scholar 

  • Vissers LE, van Ravenswaaij CM, Admiraal R et al (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955–957

    Article  PubMed  CAS  Google Scholar 

  • Weismann CG, Gelb BD (2007) The genetics of congenital heart disease: a review of recent developments. Curr Opin Cardiol 22:200–206

    Article  PubMed  Google Scholar 

  • World Health Organization. World Health Report 1998. Geneva. http://www.who.int/whr/1998/en/index.html

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Authors and Affiliations

  1. Centro de Genética Humana, Department of Pediatrics and Unidad de Gestión Clínica del Niño, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Clínica Alemana and Hospital Padre Hurtado, Av. Las Condes 12438, 771-0162, Lo Barnechea, Santiago, Chile

    Gabriela M. Repetto MD

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  1. Gabriela M. Repetto MD
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Correspondence to Gabriela M. Repetto MD .

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Editors and Affiliations

  1. Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia

    Abdelaziz Y. Elzouki (Professor of Pediatrics) (Professor of Pediatrics)

  2. National Center of Allergy, Asthma & Immunology (NCAAI), Riyadh, Saudi Arabia

    Harb A. Harfi (Director) (Director)

  3. Consultant Pediatric Gastroenterology & Hepatology, Islamic Hospital, Amman, Jordan

    Hisham M. Nazer

  4. Seattle Children's Hospital University of Washington, School of Medicine, Seattle, WA, USA

    F. Bruder Stapleton (Professor and Chair Department of Pediatrics) (Professor and Chair Department of Pediatrics)

  5. Alpert Medical School of Brown University, Woman and Infants Hospital, Providence, RI, USA

    William Oh (Professor of Pediatrics) (Professor of Pediatrics)

  6. University of Alabama, Birmingham, AL, USA

    Richard J. Whitley (Professor of Pediatrics) (Professor of Pediatrics)

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© 2012 Springer-Verlag Berlin Heidelberg

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Repetto, G.M. (2012). Congenital Malformation Syndromes. In: Elzouki, A.Y., Harfi, H.A., Nazer, H.M., Stapleton, F.B., Oh, W., Whitley, R.J. (eds) Textbook of Clinical Pediatrics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02202-9_3

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  • DOI: https://doi.org/10.1007/978-3-642-02202-9_3

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-02201-2

  • Online ISBN: 978-3-642-02202-9

  • eBook Packages: MedicineReference Module Medicine

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