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

11 Citations (Scopus)

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. (C) 2012 Elsevier Masson SAS. All rights reserved.

Original language	English
Pages (from-to)	153-158
Number of pages	6
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
3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY
MENTAL-RETARDATION
DISTAL ARTHROGRYPOSIS
MOLECULAR CHARACTERIZATION
SERINE BIOSYNTHESIS
MUSCULAR-DYSTROPHY
MUTATIONS
ANOMALIES
PHENOTYPE
DISORDER

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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. (C) 2012 Elsevier Masson SAS. All rights reserved.",

keywords = "Adducted thumbs, Etiology, Genetic, L1CAM, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, MENTAL-RETARDATION, DISTAL ARTHROGRYPOSIS, MOLECULAR CHARACTERIZATION, SERINE BIOSYNTHESIS, MUSCULAR-DYSTROPHY, MUTATIONS, ANOMALIES, PHENOTYPE, DISORDER",

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",

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issn = "1769-7212",

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TY - JOUR

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T2 - A clinical clue to genetic diagnosis

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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N2 - 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. (C) 2012 Elsevier Masson SAS. All rights reserved.

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. (C) 2012 Elsevier Masson SAS. All rights reserved.

KW - Adducted thumbs

KW - Etiology

KW - Genetic

KW - L1CAM

KW - 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY

KW - MENTAL-RETARDATION

KW - DISTAL ARTHROGRYPOSIS

KW - MOLECULAR CHARACTERIZATION

KW - SERINE BIOSYNTHESIS

KW - MUSCULAR-DYSTROPHY

KW - MUTATIONS

KW - ANOMALIES

KW - PHENOTYPE

KW - DISORDER

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DO - 10.1016/j.ejmg.2012.11.004

M3 - Article

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VL - 56

SP - 153

EP - 158

JO - European journal of medical genetics

JF - European journal of medical genetics

IS - 3

ER -

Adducted thumbs: A clinical clue to genetic diagnosis

Abstract

Keywords

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