Pena-Shokeir Syndrome

Pena-Shokeir syndrome (PSS) (OMIM 208150) is a rare, early lethal disorder with an estimated incidence of 1:12,000 (1-3) . Approximately one hundred cases have been reported (3). It was first identified by Pena and Shokeir in 1974 (1), although early descriptions resulted in the eponym, it has recently been suggested that Pena-Shokeir is not a specific unitary diagnosis or syndrome, but rather a description of a clinically and genetically heterogeneous phenotype from variable etiology, resulting from the reduction of movements in the uterus due to an intrinsic pathology regardless of the cause, and was subsequently included among the phenotypes associated with the fetal akinesia/hypokinesia deformation sequence (FADS) (4). In some families it has been suggested a recessive autosomal inheritance, and identified homozygosity for a frameshift mutation in the RAPSN gene, and homozygous truncating mutation in the DOK7 gene (5). In pathogenesis has also identified several infants with PSS, born of mothers with myasthenia gravis (6); or associated with other autosomal dominant diseases (7).


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