Review article

Clinical dysmorphology and developmental anomalies

Nina Pereza ; Department of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Croatia
Saša Ostojić ; Department of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Croatia
Ljiljana Zergoller-Čupar ; School of medicine, University of Zagreb, Zagreb, Croatia
Miljenko Kapović ; Department of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Croatia
Borut Peterlin ; Clinical institute of medical genetics, CC Ljubljana, Ljubljana, Slovenia

Abstract

Determination of diagnosis in children and adults with dysmorphic clinical features, multiple congenital anomalies and/or mental retardation, as well as understanding their etiology and pathogenesis enables the prediction of the course of congenital disorders, direction of clinical analysis, genetic counselling and selection of proper therapy. Dysmorphology is the study of patterns of human growth, development and congenital structural anomalies and is one of the core areas of clinical genetics. It implies the understanding of clinical features of genetic disorders, their molecular etiology and pathogenesis. A dysmorphic feature is a medical term referring to any physical feature which is not typical for people of certain age and ethnical group and is the consequence of abnormal morphogenesis. Studies of these developmental anomalies have contributed to the current understandings of genetic etiology of normal human growth and development as well as discovery of causative genes and mechanisms through which they affect normal embryogenesis. We present a concise review of developmental anomalies and clinical approach to people with structural developmental anomalies.

Keywords

child; congenital anomalies; genetics; malformations; structural anomalies; syndromes

Hrčak ID:

48832

URI

https://hrcak.srce.hr/48832

Publication date:

1.3.2010.

Article data in other languages: croatian

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