Pena-Shokeir phenotype with variable onset in three consecutive pregnancies

The Pena-Shokeir phenotype represents an autosomal recessive syndrome chara cterized by neurogenic arthrogryposis, facial anomalies and pulmonary hypop lasia. Prenatal diagnosis of this disease has been reported prospectively a nd in cases with positive family history. We describe here a patient who ha s had three consecutive pregnancies affected by the Pena-Shokeir syndrome. bz these pregnancies, the onset of the arthrogryposis varied between the 12 th and the 18th week of gestation. Therefore, the possibility of a variable chronological development of the main diagnostic feature of the syndrome, arthrogryposis, has to be taken into proper consideration while counseling families with a positive history for the Pena-Shokeir phenotype.