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  Česky / Czech version ACTA CHIRURGIAE PLASTICAE 42, 3, 2000, pp. 95 - 103
 
POLAND-MÖBIUS SYNDROME AND DISRUPTION SPECTRUM AFFECTING THE FACE AND EXTREMITIES: A REVIEW PAPER AND PRESENTATION OF FIVE CASES 
Kuklík M. 

Genetic Ambulance, Institute of Biology and Genetics, Second Medical Faculty,
 


Summary:

       The author summarizes hitherto assembled experience with the clinical and genetic characteristics of Poland’s and Möbius syndrome. Five selected case-records with this disease and the sequence of the Poland-Möbius syn- drome are presented. Another case-record is devoted to an allied syndrome, hypoglossia-hypodactyly, found in a spontaneously aborted fetus. For establishment of a more accurate symptomatology, an irreplaceable place is held by anthropometric examination; for objectifying the asymmetry of the chest the so-called cyrtogram, the chest circumference recorded by means of a wire, is valuable. From the aspect of genetic counseling, preconcep- tion care is always provided to mothers from families with reproductive intentions, as well as ultrasonographic ex- amination of the fetus in areas of assumed acral symptomatology (signaling phenotype). In two families ultrasonography was used for prenatal diagnosis. Invasive prenatal diagnosis by amniocentesis was employed in a family with Möbius syndrome. In these families dermatoglyphs have certain common characteristics, such a ten- dency towards simple patterns. In the wider family of one of our patients we detected in a cousin Parkes-Weber- Klippel-Trenaunay’s syndrome, which may indicate common vascular predisposing factors.

        Key words: Poland’s syndrome, Möbius syndrome, vascular disruption sequence, genetics, dermatoglyphs
       

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