Copyright 1999, Philippe Jeanty. Please do not copy.
Autosomal recessive is the most common pattern of transmission.
Active fetal movement starts in mid first trimester, and is of major importance for the normal development of the joints, and contiguous tissues. Absent or reduced fetal movement lead to stiff joints, pterygia, abnormal neuromuscular function with decreased fetal swallowing, which causes pulmonary hypoplasia and polyhydramnios 2 08D0C9EA79F9BACE118C8200AA004BA90B02000000080000000E0000005F005200650066003400330039003800370039003400310034000000 . The combination of abnormal limb position, restrictive fetal movement with reduced or absent response to acoustic stimulation, growth retardation, polyhydramnios and pulmonary hypoplasia makes the diagnosis. Anomalies less frequently described in association with Pena-Shokeir syndrome include diaphragmatic hernia, gastroschisis, and microcephaly. Trisomy 18 may present features, which overlap with Pena-Shokeir syndrome, in particular craniofacial, limbs and intrathoracic abnormalities.