A Misleading Face
Stigmatizovaný obličej
Autoři předkládají zprávu o dvouvaječných dvojčatech z normální zdravé rodiny. Dívka s hypochondroplasaí měla dysmorfický obličej a nevýznamný srdeční šelest v důsledku aberantního fibrozního ventrikulárního provazce. Její bratr, který netrpěl hypochondroplasaí, měl stejné obličejové rysy a stejnou srdeční anomálii.
Klíčová slova:
hypochondroplasie, hypertelorismus
Authors:
A. Marikova O.t'; L. Marik 2; K. Kozlowski 3
Authors‘ workplace:
Department of Anthropology and Human Genetics, The Faculty of Science, Charles University, Prague, Czech Republice Ambulant Centre for Defects of Locomotor Apparatus affiated to Faculty of Science, Charles University, Prague, Czech Republice Department of
Published in:
Čes-slov Pediat 2002; (1): 12-13.
Category:
Overview
Two dizygotic twins from a normal, healthy family are reported. The girl affected by hypochondroplasia showed a dysmorphic face and had an innocent cardiac murmur due to an aberrant fibrous ventricular cord. Her brother not affected by hypochondroplasia showed the same facial features and had the same innocent cardiac anomaly.
Key words:
hypochondroplasia, hypertelorism
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2002 Issue 1
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