Familiäre Akinesie-Hypokinesie-Sequenz (Pena-Shokeir-Phänotyp)
1994
: The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic neuromuscular defect leads, through a fetal hypokinesia-akinesia, to the development of this nonspecific phenotype and a respiratory insufficiency with early postnatal mortality. Severe central nervous anomalies are described in one-third of the reported cases. In this paper a foetus with PSP and 4 further foetuses with severe cerebral malformations and only discrete lung hypoplasia are described. It is not clear whether the cerebral malformations represent a primary or secondary developmental defect.
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