ABSTRACT
Pena-Shokeir phenotype is an autosomal recessive inherited disorder resulting from fetal akinesia or hypokinesia. It is characterized by polyhydramnios, intrauterine growth retardation, neurogenic arthogryposis, facial anomalies, short umbilical cord and pulmonary hypoplasia. In this lethal disorder a significant number of affected fetuses are born prematurely, 30% are still born and a majority die soon after birth. We report a case where consecutive siblings have been affected by this disorder, but the diagnosis could only be confirmed in the second sibling. The facial anomalies, pulmonary hypoplasia and bony ankylosis were similar to that seen in the previous baby. This baby was ventilated soon after birth and skeletal survey, ultrasound, chromosomal analysis, dye studies and muscle biopsy could be done to prove the diagnosis. Since the clinical presentation closely mimics Potter syndrome and Trisomy 18, this condition could be easily confused with these two disorders. Prenatal diagnosis and counseling could be offered to such families with positive family history