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Dysmorphism

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Normal and Abnormal Fetal Face Atlas

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Abstract

The study of fetal face anomalies using precise, reproducible, anthropometric criteria helps avoid the too-frequent subjectivity found in an approach that is not truly quantified. The discovery of dysmorphism and its characterization is one way that is frequently used to uncover various pathological fetal syndromes.

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References

How to Define Objective Facial Dysmorphism

  1. Cassidy SB, Allanson JE. Management of genetic syndromes. Hoboken: Wiley; 2010. TRI 21: 309–335, TRI 18, TRI 13: 807–823.

    Book  Google Scholar 

  2. Smiths, Kenneth LJ. Recognizable paterns of human malformation. Elsevier Saunders. TRI 21:7–9, Tri 18 :13–17, Tri 13:18–21.

    Google Scholar 

  3. Baraitzer M, Winter RM. Color atlas of congenital malformation syndromes. Baltimore/London: Mosby-Wolfe Editors; 1996. Tri 21:1–2, Tri 18:2–3, Tri 13: 3.

    Google Scholar 

  4. Leon E, Jamal SM, Zou YS, Milunsky JM. Partial trisomy 8: mosaicism due to a pseudoisodicentric chromosome 8. Am J Med Genet A. 2011;155A(7):1740–4. doi:10.1002/ajmg.a.34073. Epub 2011 Jun 10.

    Article  PubMed  Google Scholar 

  5. Morichon-Delvallez N. Orphanet. 2010.

    Google Scholar 

Upper Face Pathologies

  1. Xu J, Freeman V, Carter RF, Paes B, Heshka T, Nowaczyk JM. Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p. Am J Med Genet. 2000;93(4):285–9.

    Article  CAS  PubMed  Google Scholar 

  2. Suzanne BC, Judith EA. Deletion 4p: Wolf-Hirschhorn syndrome. In: Management of Genetic Syndromes. Hoboken: Wiley; 2010. p. 249–61.

    Google Scholar 

  3. Alain V. Orphanet: wolf-hirschhorn syndrome Dagmar Wieczorek. 2003.

    Google Scholar 

  4. Winter RM, Baraitzer M, Baraitzer M. Color atlas of congenital malformation syndromes. London/Baltimore: Mosby-Wolfe Editors; 1996. p. 6–7.

    Google Scholar 

  5. Dikkeboom CM, Roelfsema NM, Van Adrichem LNA, Wladimiro JW. The role of three-dimensional ultrasound in visualizing the fetal cranial sutures and fontanels during the second half of pregnancy. Ultrasound Obstet Gynecol. 2004;24(4):412–6.

    Article  CAS  PubMed  Google Scholar 

  6. Delahaye S, Bernard JP, Rénier D, Ville Y. Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol. 2003;21(4):347–53.

    Article  CAS  PubMed  Google Scholar 

  7. Bernard JP, Levaillant JM. Diagnostic prénatal des craniosténoses. Neurochirurgie. 2006;52(2-3):246–58.

    Article  CAS  PubMed  Google Scholar 

  8. Baraitzer M, Winter RM. Color atlas of congenital malformation syndromes. London/Baltimore: Mosby-Wolfe Editors; 1996. Crouzon: 42–43, Apert: 43–44.

    Google Scholar 

  9. Suzanne B, Cassidy J E. Management of gene c syndromes. Wiley/Allanson; 2010. 227–37.

    Google Scholar 

  10. Chaoui R, Kalache KR, Heling KS, Tennsted T, Bommer C, Korner H. Absent or hypoplastic thymus on ultrasound: a marker for dele on 22q11.2 in fetal cardiac defects. Ultrasound Obstet Gynecol. 2002;20:546–52.

    Article  CAS  PubMed  Google Scholar 

  11. Chaoui R, Heling KS, Sarut Lopez A, Thiel G, Karl K. The thymic–thoracic ratio in fetal heart defects: a simple way to identify fetuses at high risk for microdeletion 22q11. Ultrasound Obstet Gynecol. 2011;37(4):397–403.

    Article  CAS  PubMed  Google Scholar 

  12. Paladini D. How to identify the thymus in the fetus: the thy-boxn. Ultrasound Obstet Gynecol. 2011;37(4):488–92.

    Article  CAS  PubMed  Google Scholar 

  13. Stoll C, Clemen M. Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe. Ultrasound Obstet Gynecol. 2003;21(6):543–51. The Philadelphia story: the 22 .q.1.1 Dele on Report on 250 patients. Mc Donald et al Genet Couns 10:11–24.

    Article  CAS  PubMed  Google Scholar 

  14. Suzanne B, Cassidy Judith E. Management of genetic syndromes. Hoboken: Wiley; 2010. p. 263–84.

    Google Scholar 

  15. Kenneth LJ, editor. Smiths recognizable patterns of human malformation. Elsevier Saunders; p. 298–9.

    Google Scholar 

  16. Den Hollander NS, Wessels MW, Los FJ, Ursem NTC, Niermeijer MF, Wladimiro JW. Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance. Ultrasound Obstet Gynecol. 2000;15(4):282–7.

    Article  Google Scholar 

  17. Le Ray C, Viot G, Tsatsaris V, Adamsbaum C, Grangé G. Late onset microcephaly: failure of prenatal diagnosis. Ultrasound Obstet Gynecol. 2004;24(4):481–3.

    Article  PubMed  Google Scholar 

  18. Schwärzler P, Homfray T, Bernard JP, Bland JM, Ville Y. Late onset microcephaly: failure of prenatal diagnosis. Ultrasound Obstet Gynecol. 2003;22(6):640–2.

    Article  PubMed  Google Scholar 

  19. Pilu G, Falco P, Milano V, Perolo A, Bovicelli L. Prenatal diagnosis of microcephaly assisted by vaginal sonography and power Doppler. Ultrasound Obstet Gynecol. 1998;11(5):357–60.

    Article  CAS  PubMed  Google Scholar 

  20. Kenneth LJ, editor. Smiths recognizable patterns of human malformation. Elsevier Saunders; p. 870–1.

    Google Scholar 

Mid-Face Pathologies

  1. Ruano R, Molho M, Roume J, Ville Y. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol. 2004;24(2):134–40.

    Article  CAS  PubMed  Google Scholar 

  2. Moeglin D, Benoit B. Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. Ultrasound Obstet Gynecol. 2001;18(1):81–3.

    Article  CAS  PubMed  Google Scholar 

  3. Macé G, Sonigo P, Cormier-Daire V, Aubry MC, Martinovic J, Elie C, Gonzales M, Carbonne B, Dumez Y, Le Merrer M, Brunelle F, Benachi A. Use of 3D helical computed tomography in the prenatal diagnosis of fetal skeletal dysplasia. Ultrasound Obstet Gynecol. 2013;42(2):161–8.

    Article  PubMed  Google Scholar 

  4. Althuser M, Bault JP, Fontanges M, Fries N. Epiphysis and metaphysis prenatal ultrasound examination: normal aspect and a new marker for achondroplasia. Ultrasound Obstet Gynecol. 2005;26(4):393.

    Article  Google Scholar 

  5. Kenneth LJ, editor. Smiths recognizable patterns of human malformation. Elsevier Saunders. p. 390–1.

    Google Scholar 

  6. Suzanne B, Cassidy JE. Management of gene c syndromes. Wiley; 2010, p. 17–37.

    Google Scholar 

  7. Benaicha A, Dommergues M, Jouannic JM, Jacquette A, Alexandre M, Le Merrer M, Ducou Le Pointe H, Garel C. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report. Ultrasound Obstet Gynecol. 2009;34(6):724–6.

    Article  CAS  PubMed  Google Scholar 

  8. Cook K, Prefumo F, Pres F, Homfray T, Campbell S. The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. Ultrasound Obstet Gynecol. 2000;16(6):578–81.

    Article  CAS  PubMed  Google Scholar 

  9. Vasquez MP. Orphanet. Dysplasie maxillo-faciale. 2006.

    Google Scholar 

  10. Kölble N, Sobetzko D, Ersch J, Stallmach T, Eich G, Huch R, Huch A, Superti-Furga A, Wisser J. Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia. Ultrasound Obstet Gynecol. 2002;19(1):92–8.

    Article  PubMed  Google Scholar 

  11. Schild RL, Hunt GH, Moore J, Davies H, Horwell DH. Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis. Ultrasound Obstet Gynecol. 1996;8(1):62–7.

    Article  CAS  PubMed  Google Scholar 

  12. Machado LE, Bonilla-Musoles F, Osborne NG. Thanatophoric dysplasia. Ultrasound Obstet Gynecol. 2001;18(1):85–6.

    Article  CAS  PubMed  Google Scholar 

  13. Ngo C, Viot G, Aubry MC, Tsatsaris V, Grange G, Cabrol D, Pannier E. First-trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness. Ultrasound Obstet Gynecol. 2007;30(2):221–6.

    Article  CAS  PubMed  Google Scholar 

  14. Baraitzer M, Winter RM. Color atlas of congenital malformation syndromes. Mosby-Wolfe Editors. 1996;99–100.

    Google Scholar 

  15. Fong BF, de Vries JIP. Obstetric aspects of the Prader–Willi syndrome. Ultrasound Obstet Gynecol. 2003;21(4):389–92.

    Article  CAS  PubMed  Google Scholar 

  16. Muñoz A, Scazzochio E, Devesa M, Prats P, del Campo M, Torrents M, Serra B. Prenatal features in Prader Willi syndrome with two and three dimensional sonographic assessment. Ultrasound Obstet Gynecol. 2006;28(4):580.

    Article  Google Scholar 

  17. Suzanne B, Cassidy JEA. Management of genetic syndromes. Wiley; p. 625–650.

    Google Scholar 

  18. Diene G, Pinto G, Postel-Vinay A, Tauber M. ORPHANET. Syndrome de Prader-Willi. 2007.

    Google Scholar 

  19. Baraitzer M, Winter RM. Color atlas of congenital malforma on syndromes. Mosby-Wolfe Editors. 1996;160–161.

    Google Scholar 

  20. Kenneth LJ, editor. Smiths recognizable patterns of human malformation. Elsevier Saunders; p. 223–7.

    Google Scholar 

  21. Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet CS. 2000;90(5):407–22.

    Article  CAS  Google Scholar 

  22. Orphanet. Syndrome oto-palato-digital. 2005.

    Google Scholar 

  23. Robertson S. Otopalatodigital spectrum disorders, GeneReviewsTM.

    Google Scholar 

Lower Face Pathologies

  1. Burglen L, Soupre V, Diner PA, Gonzalès M, Vazquez M-P. Dysplasies oto-mandibulaires: génétique et nomenclature des formes syndromiques. Ann Chir Plast Esthet. 2001;46:400–9.

    Article  CAS  PubMed  Google Scholar 

  2. Thomson A. Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons. Mont J Med Sci. 1846–1847;7:420.

    Google Scholar 

  3. Collins ET. Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Ophthal Soc UK. 1933;20:190–2.

    Google Scholar 

  4. Franceschetti A, Klein D. Mandibulo-facial dysostosis: new hereditary syndrome. Acta Ophthalmol. 1949;27:143–224.

    CAS  Google Scholar 

  5. Cannistra C, Barbet JR, Houette A, Loro Marchese J, Ianne G. Mandibulo-facial dysostosis: comparison study of a neonate with mandibulo-facial dysostosis and a normal neonate. J Craniomaxillofac Surg . 1998;26:92–7.

    Article  CAS  PubMed  Google Scholar 

  6. The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet. 1996;12:130–6.

    Article  Google Scholar 

  7. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum genet CS. 2008.

    Google Scholar 

  8. Kaga K, Takegoshi H, Yamasoba T, Nakamura M, Kaneko M, Ino K. Aplasia of zygomatic arch and dislocation of temporomandibular joint capsule in Treacher-Collins syndrome: three-dimensional reconstruction of computed tomographic scans. Int J Pediatr Otorhinolaryngol. 2003;67(11):1189–94.

    Article  PubMed  Google Scholar 

  9. Edwards SJ, Fowlie A, Cust MP, Liu DTY, Young ID, Dixon MJ. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J Med Genet. 1996;33:603–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Hsu TY, Hsu JJ, Chang SY, Chang MS. Prenatal three-dimensional sonographic images associated with Treacher Collins syndrome. Ultrasound Obstet Gynecol. 2002;19(4):413–22.

    Article  CAS  PubMed  Google Scholar 

  11. Rotten D, Levaillant JM, Marnez H, Ducoule Le pointe H, Vicaut E. The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia. Ultrasound Obstet Gynecol. 2002;19(2):122–30.

    Article  CAS  PubMed  Google Scholar 

  12. Rotten D, Levaillant JM. Two- and three-dimensional sonographic assessment of the fetal face. 1. A systematic analysis of the normal face. Ultrasound Obstet Gynecol. 2004;23(3):224–31.

    Article  CAS  PubMed  Google Scholar 

  13. Rotten D, Levaillant JM. Two- and three-dimensional sonographic assessment of the fetal face. 2. Analysis of cleft lip, alveolus and palate. Ultrasound Obstet Gynecol. 2004;24(4):402–11.

    Article  CAS  PubMed  Google Scholar 

  14. Faure JM, Captier G, Bäumler M, Boulot P. Sonographic assessment of normal fetal palate using three dimensional imaging: a new technique. Ultrasound Obstet Gynecol. 2007;29(2):159–65.

    Article  CAS  PubMed  Google Scholar 

  15. Centre de référence des maladies endocriniennes rares de la croissance. APHP.

    Google Scholar 

  16. Gicquel C. Orphanet: syndrome de Beckwith-Wiedemann. 2005.

    Google Scholar 

  17. Gicquel C, Rossignol S, Le Bouc Y. Orphanet: encyclopédia Mars 2005 Beckwith-Wiedemann syndrome. D. Lacombe, Scientific Editor.

    Google Scholar 

  18. Baraitzer M, Winter RM. Color atlas of congenital malformation syndromes. Mosby-Wolfe Editors. 1996;164–165.

    Google Scholar 

  19. Suzanne B, Cassidy AJE. Management of gene c syndromes. Wiley; 139–148.

    Google Scholar 

  20. Nyberg D, et al. Diagnostic of fetal anomalies. Philadelphia: Lippinco Williams & Wilkins; 2003. p. 338.

    Google Scholar 

  21. Kfir M, Yevtushok L, Onishchenko S, Wertelecki W, Bakhireva L, Chambers CD, Jones KL, Hull AD. Can prenatal ultrasound detect the effects of in-utero alcohol exposure? A pilot study. Ultrasound Obstet Gynecol. 2009;33(6):683–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Diagnostic; Grossesse; Prise en charge; Syndrome d’alcoolisation foetale sub l D. Hôpital Jeanne de Flandre, Lille France Thésaurus TOXIBASE. http://bdoc.ofdt.fr/pmb/opac_css/index.php?lvl=no ce_display&id=21585.

  23. Larroque B, Kaminski M, Dehaene P, Sub ID, Querleu D. Prenatal alcohol exposure and markers of minor neurological dysfunction at preschool age. Dev Med Child Neurol. 2000;42(8):508–14.

    Article  CAS  PubMed  Google Scholar 

  24. Larroque B, Kaminski M, Lelong N, Sub ID, Dehaene P. Effects on birthweight of alcohol and caffeine consumption during pregnancy. Am J Epidemiol. 1993;9:941–50.

    Article  Google Scholar 

  25. Larroque B, Dehaene P, Sub ID, Delfosse MJ, Querleu D. Prenatal alcohol exposure and psychomotor development at preschool age American. J Public Health. 1995;85:1654–61.

    CAS  Google Scholar 

  26. Larroque B, Kaminski M. Prenatal alcohol exposure and development at preschool age: main results of a French study. Alcohol Clin Exp Res. 1998;22:295–303.

    Article  CAS  PubMed  Google Scholar 

  27. Kaminski M, Lelong N, Bean K, Chwalow J, Sub l D. Exposition prénatale à l’alcool: données … – iPubli-Inserm. www.ipubli.inserm.fr/bitstream/handle/10608/168/?sequence=13.

Multiple-Level Pathologies

  1. Spaggiari E, Vuillard E, Khung-Savatovsky S, Muller F, Oury JF, Delezoide AL, Guimiot F. Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange Syndrome. Ultrasound Obstet Gynecol. Accepted manuscript online: 20 Aug 2012.

    Google Scholar 

  2. David RF, Antonie D. Cornelia de Lange Syndrome. Management of genetic syndromes. Kline; 2010, p. 195–209.

    Google Scholar 

  3. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A. 2007;143A(12):1287–96.

    Article  PubMed  Google Scholar 

  4. Clark DM, Sherer I, Deardor MA, Byrne JLB, Loomes KM, Nowaczyk MJM, Jackson LG, Krantz ID. Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A. 2012;158A(8):1848–56.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Pajkrt E, Grin DR, Chiy LS. Brachmann–de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis. Prena Diagn. 2010;30(9):865–72.

    Article  CAS  Google Scholar 

  6. Chong K, Keang S, Hurst S, Summers A, Berger H, Seaward G, Marn N, Friedberg T, Chitayat D. Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn. 2009;29(5):489–94.

    Article  PubMed  Google Scholar 

  7. Williams JC, Barra -Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961;24:1311–8.

    Article  CAS  PubMed  Google Scholar 

  8. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardatoon and a certain facial appearance. Circulation. 1962;26:1235–40.

    Article  CAS  PubMed  Google Scholar 

  9. Morris C, Suzanne B. Cassidy JEA. Management of gene c syndromes. 2005; (vol Second Edi on): 909–20.

    Google Scholar 

  10. Hoffman JIE. Supravalvar aortic stenosis: the natural and unnatural history of congenital heart disease. Chichester/Hoboken: Wiley-Blackwell; 2009, p. 277–81.

    Google Scholar 

  11. Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993;5:11–6.

    Article  CAS  PubMed  Google Scholar 

  12. Kontos H, Manolakos E, Malligiannis P, Plachouras N. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening. Prenat Diagn. 2008;28:556–8.

    Article  PubMed  Google Scholar 

  13. Krzeminska D, Steinfeld C, Cloez JL, et al. Prenatal diagnosis of Williams syndrome based on ultrasound signs. Prenat Diagn. 2009;29:710–2.

    Article  PubMed  Google Scholar 

A Few Additional Syndromes

  1. Alby-Averseng C, Benzina N, Bault JP, Stirnemann J, Russell NE, Sonigo P, Millischer A, Attie Bitach T, Salomon LJ, Ville Y. The role of prenatal ultrasound and MRI in the prenatal diagnosis of CHARGE: a single centre prenatal series of 10 cases of CHD7 mutated fetuses. Ultrasound Obstet Gynecol. 2012;40(S1):294–5.

    Article  Google Scholar 

  2. Chaoui R, Thiel G, Sarut Lopez A, Bergann A, Heling KS. Prenatal diagnosis of a fetus with a CHARGE syndrome. Ultrasound Obstet Gynecol. 2010;36(S1):201.

    Article  Google Scholar 

  3. Bault JP. Fetal olfactory sulci and bulbs: feasibility of 3D US assessment. Ultrasound Obstet Gynecol. 2012;40(S1):221.

    Article  Google Scholar 

  4. Bault J-P, Quarello E. Retinal coloboma: prenatal diagnosis using a new technique, the ‘virtual fetal eyeground’. Ultrasound Obstet Gynecol. 2009;33(4):495–6.

    Article  PubMed  Google Scholar 

  5. Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet CS. 1998;76(5):402–9.

    Article  CAS  Google Scholar 

  6. Amiel J, Attieé-Bitach T, Marianowski R, Cormier-Daire V, Abadie V, Bonnet D, Gonzales M, Chemouny S, Brunelle F, Munnich A, Manach Y, Lyonnet S. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet CS. 2001;99(2):124–7.

    Article  CAS  Google Scholar 

  7. Menashe M, Arbel R, Raveh D, Achiron R, Yagel S. Poor prenatal detection rate of cardiac anomalies in Noonan syndrome. Ultrasound Obstet Gynecol. 2002;19(1):51–5.

    Article  CAS  PubMed  Google Scholar 

  8. Bradley E, Kean L, Twining P, James D. Persistent right umbilical vein in a fetus with Noonan’s syndrome: a case report. Ultrasound Obstet Gynecol. 2001;17(1):76–8.

    Article  CAS  PubMed  Google Scholar 

  9. van Huizen ME, Pighe M, Bijlsma EK, Knegt AC, Bilardo CM. Increased nuchal translucency thickness: a marker for chromosomal and gene c disorders in both o spring and parents. Ultrasound Obstet Gynecol. 2005;26(7):793–4.

    Article  PubMed  Google Scholar 

  10. Timmerman E, Pajkrt E, Maas SM, Bilardo CM. Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts. Ultrasound Obstet Gynecol. 2010;36(4):427–32.

    Article  CAS  PubMed  Google Scholar 

  11. Hiippala A, Eronen M, Taipale P, Salonen R, Hiilesmaa V. Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol. 2001;18(1):18–22.

    Article  CAS  PubMed  Google Scholar 

  12. Mesquita MM, Barreiro M, Dias C, Ferreira L, Taborda F, Pestana A, Vasconcelos E, Ferreira A. Prenatal diagnosis of Noonan syndrome: a case report. Ultrasound Obstet Gynecol. 2004;24(3):353. 7. Van der Burgt I. Orphanet : Syndrome de Noonan. Juin 2008.

    Article  Google Scholar 

  13. Suzanne B. Cassidy JEA. Noonan syndrome. Management of genetic syndromes. Wiley; p. 569–86.

    Google Scholar 

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Authors and Affiliations

  1. Center of women and fetal imaging, Créteil, France

    Jean-Marc Levaillant

  2. Center of fetal imaging Ambroise Paré, Les Mureaux, France

    Jean-Philippe Bault

  3. Princess Grace Hospital, Monaco, France

    Bernard Benoit

  4. Department of maxillo-facial surgery, Necker Hospital, Paris, France

    Gérard Couly

Authors
  1. Jean-Marc Levaillant
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  2. Jean-Philippe Bault
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  3. Bernard Benoit
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  4. Gérard Couly
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Levaillant, JM., Bault, JP., Benoit, B., Couly, G. (2017). Dysmorphism. In: Normal and Abnormal Fetal Face Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-43769-9_4

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