Adducted thumbs: A clinical clue to genetic diagnosis

J. M. A. Verhagen; C. T. R. M. Schrander-Stumpel; M. M. J. Blezer; J. W. Weber; J. J. P. Schrander; M. E. Rubio-Gozalbo; J. A. Bakker; A. P. A. Stegmann; Y. J. Vos; S. G. M. Frints

doi:10.1016/j.ejmg.2012.11.004

Adducted thumbs: A clinical clue to genetic diagnosis

J. M. A. Verhagen, C. T. R. M. Schrander-Stumpel, M. M. J. Blezer, J. W. Weber, J. J. P. Schrander, M. E. Rubio-Gozalbo, J. A. Bakker, A. P. A. Stegmann, Y. J. Vos, S. G. M. Frints^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Adducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e. g. the L1 syndrome. A retrospective survey was performed including patients with adducted thumbs referred to the Department of Clinical Genetics between 1985 and 2011 by perinatologists, (child) neurologists or paediatricians, in order to evaluate current knowledge on the genetic etiology of adducted thumbs. Twenty-five patients were included in this survey. Additional features were observed in 88% (22/25). In 25% (4/16) of the patients with adducted thumbs and congenital hydrocephalus L1CAM gene mutations were identified. One patient had a mosaic 5p13 duplication. Recommendations are made concerning the evaluation and genetic workup of patients with adducted thumbs.

Original language	English
Pages (from-to)	153-158
Journal	European Journal of Medical Genetics
Volume	56
Issue number	3
DOIs	https://doi.org/10.1016/j.ejmg.2012.11.004
Publication status	Published - Mar 2013

Keywords

Adducted thumbs
Etiology
Genetic
L1CAM

Access to Document

10.1016/j.ejmg.2012.11.004

Cite this

@article{194f01ff93464776a152360dba66b4a9,

title = "Adducted thumbs: A clinical clue to genetic diagnosis",

abstract = "Adducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e. g. the L1 syndrome. A retrospective survey was performed including patients with adducted thumbs referred to the Department of Clinical Genetics between 1985 and 2011 by perinatologists, (child) neurologists or paediatricians, in order to evaluate current knowledge on the genetic etiology of adducted thumbs. Twenty-five patients were included in this survey. Additional features were observed in 88% (22/25). In 25% (4/16) of the patients with adducted thumbs and congenital hydrocephalus L1CAM gene mutations were identified. One patient had a mosaic 5p13 duplication. Recommendations are made concerning the evaluation and genetic workup of patients with adducted thumbs. ",

keywords = "Adducted thumbs, Etiology, Genetic, L1CAM",

author = "Verhagen, {J. M. A.} and Schrander-Stumpel, {C. T. R. M.} and Blezer, {M. M. J.} and Weber, {J. W.} and Schrander, {J. J. P.} and Rubio-Gozalbo, {M. E.} and Bakker, {J. A.} and Stegmann, {A. P. A.} and Vos, {Y. J.} and Frints, {S. G. M.}",

year = "2013",

month = mar,

doi = "10.1016/j.ejmg.2012.11.004",

language = "English",

volume = "56",

pages = "153--158",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

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AU - Verhagen, J. M. A.

AU - Schrander-Stumpel, C. T. R. M.

AU - Blezer, M. M. J.

AU - Weber, J. W.

AU - Schrander, J. J. P.

AU - Rubio-Gozalbo, M. E.

AU - Bakker, J. A.

AU - Stegmann, A. P. A.

AU - Vos, Y. J.

AU - Frints, S. G. M.

PY - 2013/3

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AB - Adducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e. g. the L1 syndrome. A retrospective survey was performed including patients with adducted thumbs referred to the Department of Clinical Genetics between 1985 and 2011 by perinatologists, (child) neurologists or paediatricians, in order to evaluate current knowledge on the genetic etiology of adducted thumbs. Twenty-five patients were included in this survey. Additional features were observed in 88% (22/25). In 25% (4/16) of the patients with adducted thumbs and congenital hydrocephalus L1CAM gene mutations were identified. One patient had a mosaic 5p13 duplication. Recommendations are made concerning the evaluation and genetic workup of patients with adducted thumbs.

KW - Adducted thumbs

KW - Etiology

KW - Genetic

KW - L1CAM

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DO - 10.1016/j.ejmg.2012.11.004

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