[The Pena-Shokeir syndrome].
The Pena-Shokeir syndrome is undoubtedly a rare clinical picture. The aim of this work is to introduce this syndrome, which was first described 14 years ago, and to show the (limited) possibilities of intrauterine diagnosis. The fact that the etiology of the Pena-Shokeir syndrome is still discussed indicates the necessity to expand our knowledge on this clinical entity.
Zeller
R
R
Benz
J
J
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003286:Contracture / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009127:Muscle Rigidity / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
Das Pena-Shokeir-Syndrom.