Manuel Mattheisen

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

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VATER/VACTERL association : identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. / Bartels, Enrika; Schulz, Anna C; Mora, Nicole W; Pineda-Alvarez, Daniel E; Wijers, Charlotte H W; Marcelis, Carlo M; Stressig, Rüdiger; Ritgen, Jochen; Schmiedeke, Eberhard; Mattheisen, Manuel; Draaken, Markus; Hoffmann, Per; Hilger, Alina C; Dworschak, Gabriel C; Baudisch, Friederike; Ludwig, Michael; Bagci, Soyhan; Müller, Andreas; Gembruch, Ulrich; Geipel, Annegret; Berg, Christoph; Bartmann, Peter; Nöthen, Markus M; van Rooij, Iris A L M; Solomon, Benjamin D; Reutter, Heiko M.

In: Clinical Dysmorphology, Vol. 21, No. 4, 10.2012, p. 191-5.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Bartels, E, Schulz, AC, Mora, NW, Pineda-Alvarez, DE, Wijers, CHW, Marcelis, CM, Stressig, R, Ritgen, J, Schmiedeke, E, Mattheisen, M, Draaken, M, Hoffmann, P, Hilger, AC, Dworschak, GC, Baudisch, F, Ludwig, M, Bagci, S, Müller, A, Gembruch, U, Geipel, A, Berg, C, Bartmann, P, Nöthen, MM, van Rooij, IALM, Solomon, BD & Reutter, HM 2012, 'VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis', Clinical Dysmorphology, vol. 21, no. 4, pp. 191-5. https://doi.org/10.1097/MCD.0b013e328358243c

APA

Bartels, E., Schulz, A. C., Mora, N. W., Pineda-Alvarez, D. E., Wijers, C. H. W., Marcelis, C. M., Stressig, R., Ritgen, J., Schmiedeke, E., Mattheisen, M., Draaken, M., Hoffmann, P., Hilger, A. C., Dworschak, G. C., Baudisch, F., Ludwig, M., Bagci, S., Müller, A., Gembruch, U., ... Reutter, H. M. (2012). VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clinical Dysmorphology, 21(4), 191-5. https://doi.org/10.1097/MCD.0b013e328358243c

CBE

Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CHW, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC, Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, van Rooij IALM, Solomon BD, Reutter HM. 2012. VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clinical Dysmorphology. 21(4):191-5. https://doi.org/10.1097/MCD.0b013e328358243c

MLA

Vancouver

Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CHW, Marcelis CM et al. VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clinical Dysmorphology. 2012 Oct;21(4):191-5. https://doi.org/10.1097/MCD.0b013e328358243c

Author

Bartels, Enrika ; Schulz, Anna C ; Mora, Nicole W ; Pineda-Alvarez, Daniel E ; Wijers, Charlotte H W ; Marcelis, Carlo M ; Stressig, Rüdiger ; Ritgen, Jochen ; Schmiedeke, Eberhard ; Mattheisen, Manuel ; Draaken, Markus ; Hoffmann, Per ; Hilger, Alina C ; Dworschak, Gabriel C ; Baudisch, Friederike ; Ludwig, Michael ; Bagci, Soyhan ; Müller, Andreas ; Gembruch, Ulrich ; Geipel, Annegret ; Berg, Christoph ; Bartmann, Peter ; Nöthen, Markus M ; van Rooij, Iris A L M ; Solomon, Benjamin D ; Reutter, Heiko M. / VATER/VACTERL association : identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. In: Clinical Dysmorphology. 2012 ; Vol. 21, No. 4. pp. 191-5.

Bibtex

@article{ba3167203c4541efa9571f903edf8b96,
title = "VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis",
abstract = "The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.",
author = "Enrika Bartels and Schulz, {Anna C} and Mora, {Nicole W} and Pineda-Alvarez, {Daniel E} and Wijers, {Charlotte H W} and Marcelis, {Carlo M} and R{\"u}diger Stressig and Jochen Ritgen and Eberhard Schmiedeke and Manuel Mattheisen and Markus Draaken and Per Hoffmann and Hilger, {Alina C} and Dworschak, {Gabriel C} and Friederike Baudisch and Michael Ludwig and Soyhan Bagci and Andreas M{\"u}ller and Ulrich Gembruch and Annegret Geipel and Christoph Berg and Peter Bartmann and N{\"o}then, {Markus M} and {van Rooij}, {Iris A L M} and Solomon, {Benjamin D} and Reutter, {Heiko M}",
year = "2012",
month = oct,
doi = "10.1097/MCD.0b013e328358243c",
language = "English",
volume = "21",
pages = "191--5",
journal = "Clinical Dysmorphology",
issn = "0962-8827",
publisher = "LIPPINCOTT WILLIAMS & WILKINS",
number = "4",

}

RIS

TY - JOUR

T1 - VATER/VACTERL association

T2 - identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

AU - Bartels, Enrika

AU - Schulz, Anna C

AU - Mora, Nicole W

AU - Pineda-Alvarez, Daniel E

AU - Wijers, Charlotte H W

AU - Marcelis, Carlo M

AU - Stressig, Rüdiger

AU - Ritgen, Jochen

AU - Schmiedeke, Eberhard

AU - Mattheisen, Manuel

AU - Draaken, Markus

AU - Hoffmann, Per

AU - Hilger, Alina C

AU - Dworschak, Gabriel C

AU - Baudisch, Friederike

AU - Ludwig, Michael

AU - Bagci, Soyhan

AU - Müller, Andreas

AU - Gembruch, Ulrich

AU - Geipel, Annegret

AU - Berg, Christoph

AU - Bartmann, Peter

AU - Nöthen, Markus M

AU - van Rooij, Iris A L M

AU - Solomon, Benjamin D

AU - Reutter, Heiko M

PY - 2012/10

Y1 - 2012/10

N2 - The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.

AB - The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.

U2 - 10.1097/MCD.0b013e328358243c

DO - 10.1097/MCD.0b013e328358243c

M3 - Journal article

C2 - 22895008

VL - 21

SP - 191

EP - 195

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

SN - 0962-8827

IS - 4

ER -