Academic Center for Congenital Anatomical Malformations (CAM)

Erasmus MC Centre for Congenital Anatomical Malformations is the largest center within the Netherlands for fundamental, translational and applied clinical researchs, education, training and specialized (academic) care for children with congenital anatomical malformations.

The key aims of the center is to understand etiology, disease development and to provide the best pre- and postnatal care and treatment for patients.

The focus is on understanding pathophysiology in order to develop preventive strategies and new, pre and postnatal diagnostic and therapeutic techniques, initiate longterm followup and programs of transition of care to adulthood with related programs of preconception care.

On clinical expertise ACE CAM covers a large group of different malformations which need surgical intervention. This is performed within the ErasmusMC Sophia Surgical Center, which covers 14 different surgical specialties, which is the largest and most specialised center in The Netherlands.

Academic Center of Excellence

Research Activities

Our AAA ACE combines fundamental, translational, clinical and epidemiological research. The common denominator is a search for the etiology and pathogenesis of major congenital anomalies by means of research efforts ranging from translational preconception and prenatal as well as clinical studies to diagnostic (all kinds of molecular techniques) to in vivo studies in mice and fish.

Furthermore we invest in new techniques and evaluate short- and long-term clinical outcomes. To this aim a number of laboratories are involved and clinicians have dual appointments and guide research together with basic investigators. Examples are: - Plastic Surgery, Bioinformatics and Clinical Genetics: WES to detect genetic causes of craniofacial disorders and congenital hand- and foot differences - Pediatric Surgery and Clinical Genetic: Translational and regenerative research on lung, diaphragm and GI - International Hypospadias Registry – international multicenter clinical study - Pediatric Urology, Pathology, Pediatric Endocrinology: translational and clinical research in DSD - Pediatric dermatology, pediatrics, pediatric surgery, radiology, bioinformatics: WEVAR (WErkgroep VAscular and malformations Rotterdam) - Obstetrics & Gynaecology: Hospital based preiconception cohort study (Predict) Collaboration exist with groups in the other children's hospitals within the Netherlands and with children's hospitals all over the world; Great Ormond Children's Hospital-Londen, Hôpital Necker-Enfants maladies-Paris, Boston Childrens, Sik Kids Toronto to name a few.

Type of


Collaboration exist with groups in the other children’s hospitals within the Netherlands and with children’s hospitals all over the world; Great Ormond Children’s Hospital-Londen, Hôpital Necker-Enfants maladies-Paris, Boston Childrens, Sik Kids Toronto to name a few. The departments involved in ACE CAM cover a large number of rare diseases. This is recognised by the involvement in many European Reference Networks (ERNs), a European program concerning exchange of patients and knowledge concerning 7000 rare diseases, within 25 ERNs. Two of these ERNs are coordinated from ErasmusMC Sophia, and these two ERN;'s (ERNICA and CRANIO) are member of ACE CAM. Beside these two, members of ACE CAM are HCP (health Care provider) in the ERNs Skin, ITHACA, Eurogen, VASCERN, ENDOCRINE.



This ACE will enhance the level of knowledge on the full spectrum of major congenital anomalies of all levels of medical and nursing care. For this purpose, an extensive course program is offered. At presently the groups that work together in the AAA ACE contribute extensively to the Bachelor program of Medicine at Erasmus University, e.g. by means of plenary lectures, hands-on training sessions, Minor programs, and research electives (First year's medical students tutor groups; Developmental biology MSc course, molecular Biology course PhD students, Genetics course PhD/MSc students).

In addition, we contribute to the training of pediatric, obstetrics and several surgical disciplinies residents and to a range of extracurricular national and European-level teaching programs Moreover, the AAA staff participates in the Bachelor and Master program of Medicine A first fellow in the pediatric subspecialty hereditary and congenital diseases (EAA = erfelijke en aangeboren aandoeningen) has started the program in 2015.

Furthermore we contribute to the unique training program for PhD students and postdocs offered by the graduate school Medisch Genetisch Centrum Zuid-West Nederland (MGC) ( Finally educating patients: The existing Huidhuis and the under development web-based platform: "Zeldzame Ziekten" offers a unique opportunity to educate patients and professionals.


Care Activities

In the Netherlands the prevalence of congenital anatomical malformations is about 4%. Most of the affected children need to be preferably prenatally diagnosed and both pre- and postnatally- treated by a multidisciplinary team including obstetricians, pediatric surgeons, pediatricians, multiple surgical subspecialists, intensive care specialists, anesthesiologists and sometimes pediatric psychiatrist, pathologist and clinical geneticists, etc.

The primary treatment option for anatomical malformations is surgery. In view of the required multidisciplinarity the so-called Pediatric Surgical Group was initiated in 1976 in the Sophia Children's providing state-of-the art tertiary multidisciplinary medical and research. In many cases the diagnosis is made today by prenatal ultrasound at 20 weeks of gestation.

In most cases a multidisciplinary approach is needed to make a firm diagnosis using pathological, radiological and genetic analyses in the course of childhood from intrauterine life onwards as the phenotype may become more clear over time. Prevention of AAA is often hard and not always possible.Preconception and prenatal screening may sometimes present prevention in the case of monogenic disease for which the inherited mutation is known The ultimate goal is to establish a centre of specialized integrated multidisciplinary diagnostics and care in complex patients using registries of patients, webbased patient initiated and centred care, integration between patient care and research.

Societal Relevance to Research, Education and Patient Care

In the Netherlands 4 in 100 children are born with a Congenital Anatomical Malformation. Most of these disease are rare and need highly specialised care. For most patients we see, we have a last resort function. Public: the ACE will provide information to both parents and patients about their anatomical malformations and will contribute to a better understanding of the origin and development of these abnormalities.

Education: through the efforts of the ACE, accumulating data will contribute to adaptations in student's educational curriculum. Moreover, the collected information on patients will ultimately benefit future patients as more personalized treatments will be offered.

Research/education: our research programs ensure that more knowledge about the origin and development of these anatomical malformations will be available. This may contribute not only to the members of the ACE, but also to others in distant fields of interest. Our work is and will be communicated orally and in written communication to patients, patient organisations students and healthcare providers and the scientific community.

Viability of Research, Education and Patient Care

The viability of the ACE is guaranteed by the (research) meetings within each (research) group or department and by a monthly meeting for all the PI's in which we discuss patients (care), research projects, and education plans. Every year all members participate in the Sophia Research days.

Moreover, most groups participate in the Talent Program of the Theme Sophia. In this program, young talented people are selected and guided for a period of 5 years. These talents are provided mentoring and assistance from the research support office of the Theme Sophia.

More in general, we greatly encourage PhD students, working within the ACE, to be member of one the graduate schools and it is stimulated that PhDs visit foreign research groups, congresses and courses. Not only do we think that this will boost the carrier of the young scientists but it also improve the collaborations. Several groups with in ACE AAA are world leaders in their subarea

Key and relevant publications of the last five years

  • Jobe AH, Tibboel D. Update in pediatric lung disease. Am J Respir Crit Care Med 2014; 189(9):1031-1036. Impact Factor12
  • Schoonen HM, Essink-Bot ML, Van Agt HM, Wildschut HI, Steegers EA, De Koning HJ. Informed decision-making about the fetal anomaly scan: what knowledge is relevant? Ultrasound Obstet Gynecol. 2011; 37:649-57. Impact factor 3.7
  • Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.. Nat Genet. 2013; 45(3):304-7. Impact Factor 32.2
  • Dijkman RR, van Nieuwenhoven CA, Selles RW, Hovius SE. Comparison of Functional Outcome Scores in Radial Polydactyly. J Bone Joint Surg Am. 2014;96(6):463-70. Impact Factor 5.4
  • Raphael MF, Breugem CC, Vlasveld FA, de Graaf M, Slieker MG, Pasmans SG, Breur JM. Is cardiovascular evaluation necessary prior to and during beta-blocker therapy for infantile hemangiomas?: A cohort study. J Am Acad Dermatol. 2015;72(3):465-72. Impact Factor 5.5
  • Pullens B, Pijnenburg MW, Hoeve HJ, Baatenburg de Jong RJ, Buysse CM, Timmerman MK, van der Schroeff MP, Joosten KF. Long-term functional airway assessment after open airway surgery for laryngotracheal stenosis. Laryngoscope. 2016;126(2):472-7. Impact Factor 2.5
  • Schilders KA, Eenjes E, van Riet S, Poot AA, Stamatialis D, Truckenmüller R, Hiemstra PS, Rottier RJ. Regeneration of the lung: Lung stem cells and the development of lung mimicking devices. Respir Res. 2016:;3;17:44. Impact Factor 3.8
  • Pereira-Terra P, Deprest JA, Kholdebarin R, Khoshgoo N, DeKoninck P, Munck AA, Wang J, Zhu F, Rottier RJ, Iwasiow BM, Correia-Pinto J, Tibboel D, Post M, Keijzer R. Unique Tracheal Fluid MicroRNA Signature Predicts Response to FETO in Patients With Congenital Diaphragmatic Hernia. Ann Surg. 2015;262(6):1130-40. Impact Factor 8.7
  • Halim D, Hofstra RMW, Signorile L, Verdijk RM, van der Wert CS, Sribudiani Y, Brouwer RW van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Hum Mol Genet. 2016; 25(3):571-83. Impact Factor 6.4
  • van den Hondel D, Sloots CE, Bolt JM, Wijnen RM, de Blaauw I, IJsselstijn H.Psychosexual Well-Being after Childhood Surgery for Anorectal Malformation or Hirschsprung's Disease. J Sex Med. 2015;12(7):1616-25. Impact Factor 2.8
  • Budde RPJ, Graaf N. de, Wijnen RMH, Beynum IM. Herniated Liver mimicking an intracardiac mass in a newborn with omphalocele. J of cardiovascular computed tomography 2016, 11 153-154
  • Collins, J.J.P. (external organisation), Tibboel, D. (pediatric surgery), Kleer, I.M. de (pediatrics-pulmonology), Reiss, I.K.M. (pediatrics-IC/N) & Rottier, R.J. (pediatric surgery) (2017). The Future of Bronchopulmonary Dysplasia: emerging Pathophysiological Concepts and Potential New Avenues of Treatment. Frontiers in Medicine, 4:61.
  • Dijk, M. van (pediatric surgery + pediatrics-IC/N), Tibboel, D. (pediatric surgery) & Simons, S.H.P. (pediatrics-IC/N) (2017). Oral sucrose for acute pain studied in more than 7000 neonates, but many questions remain. Archives of Disease in Childhood. Fetal and Neonatal Edition, 102 (4), F373-F373. doi: 10.1136/archdischild-2016-311930
  • Eijnden, M.H.A. van den , Kleine, R.H.J. de, Blaauw, I. de, Peeters, P. , Koot, B.P.G., Oomen, M.W.N. , Sloots, C.E.J., Gemert, W. van , Zee, D.C. van de, Heurn, L.W.E. , Verkade, H.J., Wilde, J. & Hulscher, J.B.F. (2017). Choledochal Malformation in Children: Lessons Learned from a Dutch National Study. World Journal of Surgery, 41 (10), 2631-2637
  • Eijnden, M.H.A. van den, Kleine, R.H. de, Blaauw, I. de, Peeters, P. , Koot, B. , Oomen, M.W.N., Sloots, C.E.J., Gemert, W. van, Zee, D.C. van der, Heurn, L.W.E. van, Verkade, H.J., Wilde, J. & Hulscher, J.B.F. (2017). The timing of surgery of antenatally diagnosed choledochal malformations: A descriptive analysis of a 26-year nationwide cohort. Journal of Pediatric Surgery, 52 (7), 1156-1160
  • Erdem, O , Kuiper, J.W., Ince, C. & Tibboel, D. (2017). Videomicroscopic investigation of the microcirculation requires uniform definitions. Physiological Reports, 5 (11):e13303. doi: 10.14814/phy2.13303
  • Fanjul, M., Samuk, I. Bagolan, P. Leva, E. , Sloots, C.E.J. Gine, C. Aminoff, D. & Midrio, P. (2017). Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium. Pediatric Surgery International, 33 (8), 849-854
  • Fivez, T., Kerklaan, D., Mesotten, D., Verbruggen, S.C.A.T. , Joosten, K.F.M. & Berghe, G. van den (2017). Evidence for the use of parenteral nutrition in the pediatric intensive care unit. Clinical Nutrition, 36 (1), 218-223
  • Halim D. Wilson, M.P. Oliver, D. Brosens, E. , Verheij, J. Han, Y. , Nanda, V., Lyu, Q. Doukas, M. Stoop, H., Brouwer, R.W.W IJcken, W.F.J. van, Slivano, O.J), Burns, AJ Christie, C.K. Bentley, K.L.D., Brooks, A.S., Tibboel, D., Xu, S.W., Jin, Z.G, Djuwantono, T. Yan, W. Alves, M.M. Hofstra, R.M.W. & Miano, J.M. ) (2017). Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. Proceedings of the National Academy of Sciences of the United States of Ame, 114 (13), E2739-E2747
  • Halim D, Brosens, E. Muller, F. Wangler, M.F. Beaudet, A.L. Lupski, J. Akdemir, Z.H.C. Doukas, M. Stoop, J.A. Graaf, B.M. de Brouwer, R.W.W. IJcken, W.F.J. van Oury, J.F. Rosenblatt, J. Burns, AJ , Tibboel, D., Hofstra, R.M.W. & Alves, M.M. (2017). Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. American Journal of Human Genetics, 101 (1), 123-129
  • Harmsen, W.J., Aarsen, F.J., Zijp, M.H.M. van , Rosmalen, J.M. van ,Wijnen, R.M.H. Tibboel, D. & IJsselstijn, H. (2017). Developmental problems in patients with oesophageal atresia: a longitudinal follow-up study. Archives of Disease in Childhood. Fetal and Neonatal Edition, 102 (3), F214-F219
  • Hulshof, E.C. Hanff, L.M. , Olieman, J.F. , Bekkum, S.S. van , Driessen, G.J.A. Meeussen, C.J.H.M. & Escher, J.C. (pediatrics-gastro) (2017). Taurolidine in pediatric home parenteral nutrition patients Pediatric Infectious Disease Journal, 36 (2), 233-235.
  • Leeuwen, L, Mous, D.S. Rosmalen, J.M. van , Olieman, J.F. Andriessen, L. Gischler, S. , Joosten, K.F.M. , Wijnen, R.M.H. , Tibboel, D. , IJsselstijn, H. Spoel, M. (pediatric surgery) (2017). Congenital Diaphragmatic Hernia and Growth to 12 Years. Pediatrics, 140 (2):e20163659
  • Leeuwen, L. , Heijst, A.F.J. van Rosmalen, J.M. van Rijke, Y.B. de Beurskens, L. Tibboel, D. Akker, E.L.T. van den) & IJsselstijn H. (2017). Changes in thyroid hormone concentrations during neonatal extracorporeal membrane oxygenation. Journal of Perinatology, 37 (8), 906-910
  • Leeuwen, L. , Heijst, A.F.J. van Vijfhuize, S. , Beurskens, L.W.J.E., Weijman, G Tibboel, D. Akker, E.L.T. van den & IJsselstijn, H. (2017). Nationwide Evaluation of Congenital Hypothyroidism Screening during Neonatal Extracorporeal Membrane Oxygenation. Neonatology, 111 (2), 93-99
  • Lorusso, R. Taccone, F. Beliato, M. Delnoij, T. Zanatta, P. Cvetkovic, M. Davidson, M. Belohlavek, J. Matta, N. Davis, C.IJsselstijn, H. Mueller, T. Muelenbach, R. Donker, D. David, P. Nardo, M. Di, Vlasselaers, D. Miranda, D. & Hoskote, A. (2017). Brain monitoring in adult and pediatric ECMO patients: the importance of early and late assessments. Minerva Anestesiologica, 83 (10), 1061-1074
  • Matic, M. Jongen, J.L.M. Elens, L. , Wildt, S.N. de , Tibboel, D. Sillevis Smitt, P.A.E. & Schaik, R.H.N. van (2017). Advanced cancer pain: the search for genetic factors correlated with interindividual variability in opioid requirement. Pharmacogenomics, 18 (12), 1133-1142
  • Mauritz, F, Rinsma, N.F. Heurn, E. van, Sloots, C.E.J. Siersema, P. Houwen, R.H.J. Zee, D.C. van der Masclee, A. Conchillo, J. & Herwaarden-Lindeboom, M.Y.A. Van (2017). Esophageal mucosal integrity improves after laparoscopic antireflux surgery in children with gastroesophageal reflux disease. Surgical Endoscopy-Ultrasound and Interventional Techniques, 31 (7), 2910-2917.
  • Morini, F. Capolupo, I. Weteringen, W. van & Reiss, I.K.M. (pediatrics-IC/N) (2017). Ventilation modalities in infants with congenital diaphragmatic hernia. Seminars in Pediatric Surgery, 26 (3), 159-165.
  • Mous, D.S., Buscop-van Kempen, M.J. , Wijnen, R.M.H ,Tibboel, D. & Rottier, (2017). Changes in vasoactive pathways in congenital diaphragmatic hernia associated pulmonary hypertension explain unresponsiveness to pharmacotherapy. Respiratory Research, 18:187.
  • Putte, R. van de Wijers, C., Blaauw, I. de , Marcelis, C. Sloots, C.E.J. Brooks, A.S. Broens, P. ), Roeleveld, N. Zanden, L. van der & Rooij, I. de (2017). Previous miscarriages and GLI2 are associated with anorectal malformations in offspring. Human Reproduction, 32 (2), 299-306
  • Raaijmakers, A. Jacobs, L. Rayyan, M. Tienoven, T.P. van (Ortibus, E. Levtchenko, E. Staessen, J. & Allegaert, K. (2017). Catch-up growth in the first two years of life in Extremely Low Birth Weight (ELBW) infants is associated with lower body fat in young adolescence. PLoS One (print), 12 (3):e0173349. doi: 10.1371/journal.pone.0173349
  • Raaijmakers, A. Zhang, Z. Claessens, J. , Cauwenberghs, N. , Tienoven, T.P. van Wei, F.F. Jacobs, L. , Levtchenko, E. Pauwels, S. Kuznetsova, T. Allegaert, K. & Staessen, J. (2017). Does Extremely Low Birth Weight Predispose to Low-Renin Hypertension? Hypertension, 69 (3), 443-449
  • Rayyan, M. Rommel, N. Tack, J. Deprest, Jm & Allegaert, K. (2017). Esophageal Atresia: Future Directions for Research on the Digestive Tract. European Journal of Pediatric Surgery, 27 (4), 306-312.
  • Schiller, R.M. , Bosch, G.E. van den Muetzel, R.L. Smits, M. Dudink, J. Tibboel, D. IJsselstijn, H.) & White, T.J.H. (2017). Neonatal critical illness and development: white matter and hippocampus alterations in school-age neonatal extracorporeal membrane oxygenation survivors. Developmental Medicine & Child Neurology, 59 (3), 304-310
  • Schiller, R.M. , IJsselstijn, H. Madderom, M.J. Rietman, A.B , Smits, M. , Heijst, A.F.J. van Tibboel, D. White, T.J.H. & Muetzel, R.L. . Neurobiologic Correlates of Attention and Memory Deficits Following Critical Illness in Early Life. Critical Care Medicine, 45 (10), 1742-1750
  • Snoek, K.G. Peters, N.C.J. Rosmalen, J.M. van Heijst, A.F.J. van Eggink, A.J. Sikkel, E. Wijnen, R.M. IJsselstijn, H. Cohen-Overbeek, T.E. & Tibboel, D. (2017). The validity of the observed-to-expected lung-to-head ratio in congenital diaphragmatic hernia in an era of standardized neonatal treatment; a multicenter study. Prenatal Diagnosis, 37 (7), 658-665.
  • Toussaint-Duyster, L.C.C. , Zijp, M.H.M. van Spoel, M. Lam, M. Wijnen, R.M.H. Jongste, J.C. de, Tibboel, D. Rosmalen, J.M. van & IJsselstijn, H. (2017). Determinants of exercise capacity in school-aged esophageal atresia patients. Pediatric Pulmonology, 52 (9), 1198-1205
  • IJsselstijn, H. Gischler, S. Wijnen, R.M.H. & Tibboel, D. (2017). Assessment and significance of long-term outcomes in surgery. Seminars in Pediatric Surgery, 26 (5), 281-285
  • Vanhorebeek, I. Verbruggen, S.C.A.T. , Casaer, M. Gunst, J. Wouters, P. Hanot, J. Guerra, G. Vlasselaers, D. , Joosten, K.F.M. & Berghe, G. van den (2017). Effect of early supplemental parenteral nutrition in the paediatric ICU: a preplanned observational study of post-randomisation treatments in the PEPaNIC trial. The Lancet Respiratory Medicine, 5 (6), 475-483
  • Vergouwe, F.W.T, Spoel, M. ,Beelen, N.W.G. van Gischler, S. Wijnen, R.M.H. Rosmalen, J.M. van & IJsselstijn, H. (2017). Longitudinal evaluation of growth in oesophageal atresia patients up to 12 years. Archives of Disease in Childhood. Fetal and Neonatal Edition, 102 (5), F417-F422
  • Wijnen, R. Anzelewicz, S.M. Petersen, C. & Czauderna, P. (2017). European Reference Networks: Share, Care, and Cure-Future or Dream? European Journal of Pediatric Surgery, 27 (5), 388-394.
  • Zani, A. Eaton, S. Morini, F. Puri, P. Rintala, R. , Heurn, E. van Lukac, M. , Bagolan, P. Kuebler, J. Friedmacher, F Wijnen, R. Tovar, J.A. Hoellwarth, M. & Pierro, A. (2017). European Paediatric Surgeons' Association Survey on the Management of Hirschsprung Disease. European Journal of Pediatric Surgery, 27 (1), 96-101.
  • Caron CJJM, Pluijmers BI, Maas BDPJ, Klazen YP, Katz ES, Abel F, van der Schroeff MP, Mathijssen IMJ, Dunaway DJ, Mills C, Gill DS, Bulstrode N, Padwa BL, Wolvius EB, Joosten KFM, Koudstaal MJ. Int J Oral Maxillofac Surg. 2017 Oct;46(10):1330-1337.
  • Caron CJJM, Pluijmers BI, Wolvius EB, Looman CWN, Bulstrode N, Evans RD, Ayliffe P, Mulliken JB, Dunaway D, Padwa B, Koudstaal MJ. J Craniomaxillofac Surg. 2017 Nov;45(11):1906
  • Craniofacial and extracraniofacial anomalies in craniofacial microsomia: a multicenter study of 755 patients’. Caron CJJM, Pluijmers BI, Wolvius EB, Looman CWN, Bulstrode N, Evans RD, Ayliffe P, Mulliken JB, Dunaway D, Padwa B, Koudstaal MJ. J Craniomaxillofac Surg. 2017 Aug;45(8):1302-1310.
  • Perinatal complications in patients with unisutural craniosynostosis: An international multicentre retrospective cohort study. Cornelissen MJ, Söfteland M, Apon I, Ladfors L, Mathijssen IMJ, Cohen-Overbeek TE, Bonsel GJ, Kölby L. J Craniomaxillofac Surg. 2017 Nov;45(11):1809-1814.
  • Prenatal ultrasound parameters in single-suture craniosynostosis. Cornelissen MJ, Apon I, van der Meulen JJNM, Groenenberg IAL, Kraan-van der Est MN, Mathijssen IMJ, Bonsel GJ, Cohen-Overbeek TE. J Matern Fetal Neonatal Med. 2017 Jun 14:1-8.
  • Very low prevalence of intracranial hypertension in trigonocephaly. Cornelissen MJ, Loudon SE, van Doorn FE, Muller RP, van Veelen MC, Mathijssen IM. Plast Reconstr Surg. 2017 Jan;139(1):97e-104e.
  • Complications in mandibular midline distraction. de Gijt JP, Gül A, Wolvius EB, van der Wal KGH, Koudstaal MJ. Craniomaxillofac Trauma Reconstr. 2017 Sep;10(3):204-207.
  • Follow up of surgically-assisted rapid maxillary expansion after 6.5 years: skeletal and dental effects. de Gijt JP, Gül A, Tjoa ST, Wolvius EB, van der Wal KG, Koudstaal MJ. Br J Oral Maxillofac Surg. 2017 Jan;55(1):56-60.
  • The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. Driessen C, Rijken BF, Doerga PN, Dremmen MH, Joosten KF, Mathijssen IM. J Craniomaxillofac Surg. 2017 Jul;45(7):1069-1073.
  • Update on treatment of sagittal synostosis: What can we learn from the 16th congress of the International Society of Craniofacial Surgery? Driessen C, Mathijssen I, van Veelen ML. J Craniofac Surg. 2017 May;28(3):589-590.
  • Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA. Eur J Hum Genet. 2017 Oct;25(10):1126-1133.
  • Mesenchymal stem cell-mediated endochondral ossification utilising micropellets and brief chondrogenic priming. Knuth CA, Witte-Bouma J, Ridwan Y, Wolvius EB, Farrell E. Eur Cell Mater. 2017 Sep 22;34:142-161.
  • The Generation R Study: design and cohort update 2017. Kooijman MN, Kruithof CJ, van Duijn CM, Duijts L, Franco OH, van IJzendoorn MH, de Jongste JC, Klaver CC, van der Lugt A, Mackenbach JP, Moll HA, Peeters RP, Raat H, Rings EH, Rivadeneira F, van der Schroeff MP, Steegers EA, Tiemeier H, Uitterlinden AG, Verhulst FC, Wolvius E, Felix JF, Jaddoe VW. Eur J Epidemiol. 2016 Dec;31(12):1243-1264.
  • The association of subjective orthodontic treatment need with oral health-related quality of life. Kragt L, Jaddoe V, Wolvius E, Ongkosuwito E. Community Dent Oral Epidemiol. 2017 Aug;45(4):365-371.
  • Letter to the Editor. Raised intracranial pressure and cognitive delay in craniosynostosis. Mathijssen I, de Goederen R, Versnel SL, Joosten KFM, van Veelen MC, Tasker RC. J Neurosurg Pediatr. 2017 Nov;20(5):498-502.
  • Diagnostic value of exome and whole genome sequencing in craniosynostosis. Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO. J Med Genet. 2017 Apr;54(4):260-268.
  • Vertebral anomalies in craniofacial microsomia: a systematic review. Renkema RW, Caron CJJM, Mathijssen IMJ, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ. Int J Oral Maxillofac Surg. 2017 Oct;46(10):1319-1329.
  • Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Gunther S, Magielsen FJ, Ockeloen CW, A Romos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA. Identification of causavative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. Eur J Hum Genet 2017 Oct, 25 (10)1126-1133
  • Van Lieshout MJ, Joosten KF, Mathijssen IM, Koudstaal MJ, Wolvius EB, van der Schroeff MP. Non surgical and surgical interventions for airway obstruction in children with Robin sequence. J Craniomaxillofac Surg 2016 dec, 44 (12) 1871-1879
  • Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A. Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula. Eur J Hum Genet. 2016 Dec;24(12):1715-1723
  • Costerus S, Zahn K, van de Ven K, Vlot J, Wessel L, Wijnen R. Thoracoscopic versus open repair of CDH in cardiovascular stable neonates. Surg Endosc. 2016 Jul;30(7):2818-24
  • Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Hum Mol Genet. 2016 Feb 1;25(3):571-83
  • Madderom MJ, Schiller RM, Gischler SJ, van Heijst AF, Tibboel D, Aarsen FK, IJsselstijn H. Growing Up After Critical Illness: Verbal, Visual-Spatial, and Working Memory Problems in Neonatal Extracorporeal Membrane Oxygenation Survivors. Crit Care Med. 2016 Jun;44(6):1182-90
  • Snoek KG, Capolupo I, van Rosmalen J, Hout Lde J, Vijfhuize S, Greenough A, Wijnen RM, Tibboel D, Reiss IK; CDH EURO Consortium. Conventional Mechanical Ventilation Versus High-frequency Oscillatory Ventilation for Congenital Diaphragmatic Hernia: A Randomized Clinical Trial (The VICI-trial). Ann Surg.
  • van der Steeg HJ, Botden SM, Sloots CE, van der Steeg AF, Broens PM, van Heurn LW, Travassos DV, van Rooij IA, de Blaauw I. Outcome in anorectal malformation type rectovesical fistula: a nationwide cohort study in The Netherlands. J Pediatr Surg. 2016 Aug;51(8):1229-33
  • Baas M, Stubbs AP, Zessen DBH van, Galjaard RJH, Spek PJ van der, Hovius SER, Nieuwenhoven CA van (2017). Identification of Associated genes and diseases in patients with congential Upper-Limb anomalies: A novel application of the OMT classification. J of Hand Surgery American valume, 42 (7) 533, 545.
  • Annelieke Hijkoop, Nina C J Peters, Rosan L Lechner, Yolande van Bever, Annabel P J M van Gils-Frijters, Dick Tibboel, René M H Wijnen, Titia E Cohen-Overbeek, Hanneke IJsselstijn. Omphalocele: from diagnosis to growth and development at 2 years of age Dis Child Fetal Neonatal Ed. 2018; 0:F1-F6 pii: fetalneonatal-2017-314700
  • Cornelissen MJ, Apon I, van der Meulen JJNM, Groenenberg IAL, Kraan-van der Est MN, Mathijssen IMJ, Bonsel GJ, Cohen-Overbeek T.E. Prenatal ultrasound parameters in single-suture craniosynostosis. Journal of Maternal-Fetal & Neonatal Medicine 2017 Jun 14.1-8
  • Cornelissen MJ, Söfteland M, Apon I, Ladfors L, Mathijssen IMJ, Cohen-Overbeek T.E. Bonsel GJ, Kölby L. Perinatal complications in patients with unisutural craniosynostosis: An international multicenter retrospective cohort study. J. Craniomaxillofac Surg 2017

PhD theses of the last five years

  • Floortje van Eijck. Strategies and trends in the treatment of (giant) omphalocele. 2011. (Promotor: Prof.dr. R.M.H. Wijnen)
  • Huang Y. Dying for oxygen. Roles of hypoxia inducible factor 2α and 3α during lung development. 2012 (Promotor: Prof.dr. D.Tibboel; copromotor: Dr. R. Rottier).
  • Yvonne van der Zwan. Disorders of Sex Development, Clinical outcomes, (epi) genetic regulation and germ cell cancer. 2013 (Promotoren: Prof.dr. L.H.J. Looijenga and Prof.dr. S.L.S. Drop).
  • Bianca Rijken. Syndromic and complex craniosynostosis: skull and brain abnormalities in relation to intracranial hypertension. 2016 (Promotor: Prof.dr. I.M.J.Mathijssen; copromotor Dr. M.H. Lequin).
  • M.S. Ardon. Needing a Safe Pair of Hands. 2014 (Promotoren: Prof.dr. H.J.Stam and Prof.dr. S.E.R.Hovius; copromotoren: Dr. R.W. Selles and Dr. W.G.M. Janssen).
  • Duco Schriemer. Genetics of Hirschsprung disease, 2016 (Promotor: Prof.dr. R.M.W. Hofstra; co-promotor Dr. B.J.L. Eggen) Scientist at 20Med Therapeutics
  • Erwin Brosens. Foregut development: An act of balance. 2014 (Promotor: Prof.dr. D.Tibboel; co-promotor Dr. J.E.M.M. de Klein) Post Doc in the department of Clinical
  • Erik Nout. On the Le Fort III Osteomety. 2010 (Promotor: Prof.dr. K.G.H. van der Wal; copromotoren: Dr. J.F. Veenland and Dr. E.B. Wolvius).
  • Marijana Vujkovic. Dietary patterns and human reproduction. 2010 (Promotoren: Prof.dr. R.P.M. Steegers-Theunissen, Prof.dr. E.A.P. Steegers, Prof.dr. P.J. van der Spek) Bioinformatician at CHOP Philadelphia, USA
  • Anna Koopmans Prognostic implications of acquired genetic changes in uveal melanoma febr 2015 (DE KLEIN)
  • Mooij MG Evolution in pediatric pharmacology. Microdosing, metabolism, and membrane transporters 2016 Promotors: Tibboel, prof.dr D; Wildschut, dr ED
  • Leeuwen, L. (2017, December 12). From The First Breath Of Life : congenital diaphragmatic hernia, the child at risk. EUR Supervisor(s): Prof. Dr. D. Tibboel, Prof. Dr. R.M.H. Wijnen & Dr. H. IJsselstijn.
  • Mous, D.S. (pediatric surgery) (2017, November 30). Pulmonary Vascular Defects in Congenital Diaphragmatic Hernia : the quest for early factors and intervention. EUR Supervisor(s): Prof. Dr. D. Tibboel, Prof. Dr. R.M.H. Wijnen & Dr. R.J. Rottier
  • Poenaru, D. (2017, April 20). Global Burden of Pediatric Surgical Disease. EUR (232 pag.) Supervisor(s): prof.dr. J.L. Severens, Prof. Dr. D. Tibboel & dr. E.A. Stolk.
  • Rijken B. Syndromic and complex craniosynostosis: skull and brain abnormalities in relation to intracranial pressure april 2016 Promotor: Prof.dr. E.B. Wolvius, Prof.dr. I.M.J. Mathijssen; co-promotor dr. K.F.M. Joosten
  • Craniosynostosis: Obstructive sleep apnea in a unifying theory for intracranial hypertension Bart Spruijt 30 september 2016, Rotterdam Promotor: prof.dr. I.M.J. Mathijssen; Co-promotor: K.F.M. Joosten
  • Sagittal suture synostosis: From total cranial vault remodeling to minimally invasive spring distraction Marie-Lise van Veelen 13 juni 2017, Rotterdam Promotoren: Clemens Dirven en Irene Mathijssen
  • Exploring Robin Sequence Manouk van Lieshout 20 september 2017, Rotterdam Promotor: Prof.dr. E.B. Wolvius, Prof.dr. I.M.J. Mathijssen; co-promotor dr. K.F.M. Joosten
  • Dental Development: Normal Variations and Disturbances of the Developing Dentition Brunilda Dhamo 5 december 2017, Rotterdam Promotor: Prof.dr. E. B. Wolvius; co-promotor: dr. E.M. Ongkosuwito
  • Unisutural craniosynostosis: simple or complex? Martijn Cornelissen 13 oktober 2017, Rotterdam Promotor: Irene Mathijssen; Co-Promotor: Titia Cohen
  • Goos, J.A.C. (plastic and reconstructive surgery) (2017, December 20). Facing the Future of Craniofacial Genetics. EUR Supervisor(s): Prof. Dr. I.M.J. Mathijssen, Prof. Dr. P.J. van der Spek & Dr. Ir. A.M.W. van den Ouweland.
  • Duco Schriemer, June 20, 2016 Genetics of Hirschsprung disease
  • Danny Halim, December 7, 2016 Genetics of Congenital Bowel Diseases
  • Rajendra Kumar, Chauhan November 1, 201Genetics of Hirschsprung disease
  • Nicole Janssen‡, October 11, 2017 CHARGE syndrome

Non-scientific publications related to the ACE

Principal coordinator(s)

Last updated: 365 days ago.