[Edwards' syndrome].
Two cases of Edwards' syndrome were observed. One occurred in a girl aged 6 months, the other in a male neonate. The two children showed a highly characteristic appearance of both the face and the extremities, so that it arouse suspicion of 18-chromosomy. The latter was confirmed by a postmortem cytogenetic examination. The syndrome also includes malformations of inner organs and microscopical architectural changes of organs, which occurred in both the cases described, but different in type.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001344:Autopsy; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy
Edwardsův syndrom.