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Phenotypic abnormalities: Terminology and classification

Authors

  • Johannes H.M. Merks,

    Corresponding author
    1. Department of Pediatric Oncology/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands
    • Department of Pediatric Oncology, Floor F8-Room 245, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
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  • Clara D.M. van Karnebeek,

    1. Department of Clinical Genetics and Pediatrics/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands
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  • Hubert N. Caron,

    1. Department of Pediatric Oncology/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands
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  • Raoul C.M. Hennekam

    1. Department of Clinical Genetics and Pediatrics/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands
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Abstract

Clinical morphology has proved essential for the successful delineation of hundreds of syndromes and as a powerful instrument for detecting (candidate) genes (Gorlin et al. [2001]; Syndromes of the Head and Neck; Oxford: Oxford University Press. 1 p]. The major approach to reach this has been careful clinical evaluations of patients, focused on congenital anomalies. A similar careful physical examination performed in patients, who have been treated for childhood cancer, may allow detection of concurrent patterns of anomalies and provide clues for causative genes. In the past, several studies were performed describing the prevalence of anomalies in patients with cancer. However, in most studies, it was not possible to indicate the biologic relevance of the recorded anomalies, or to judge their relative importance. Are the detected anomalies common variants, and should they thus be regarded as normal, or are they minor anomalies or true abnormalities, indicating a possible developmental cause? Classification of items in the categories of common variants (disturbances of phenogenesis with a prevalence >4%), minor anomalies (disturbances of phenogenesis with a prevalence ≤4%), and malformations (disturbances of embryogenesis) should allow weighing the importance of the scored items in the population under study, and should facilitate assessment of developmental disturbances (if any) in a study group. The lack of published consensus in the literature led us to produce a classification list with a twofold goal. First, we wanted to enhance uniformity in the scoring and classification of apparently abnormal physical findings by a nomenclature for errors of morphogenesis detectable on surface examination, and secondly a uniform classification system. This should allow investigators to evaluate systematically the presence of patterns in phenotypic anomalies, in the general population, and in patients with various disorders, suspected to be a developmental anomaly. Also, normal values may be obtained this way. Second, the list will allow a determination of the importance of the collected symptoms in a study population. We tested the feasibility of the application of the classification list in a study population: the list was piloted in a group of patients who have had cancer as a child, to detect patterns of anomalies related to specific types of tumors. © 2003 Wiley-Liss, Inc.

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