[Pena-Shokeir phenotype (fetal akinesia/hypokinesia sequence)].

Abstract excerpt

Pena-Shokeir syndrome is a rare lethal disorder which clinical phenotype is the result of a deformation sequence caused by fetal akinesia/hypokinesia. In approximately 50 % cases an autosomal recessive mode of inheritance were documented. Main clinical characteristics of Pena-Shokeir syndrome are: multiple ankylosis, pulmonary hypoplasia and facial dysmorphism. We have described female newborn with pulmonary...

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