Congenital Pena-Shokeir Phenotype : A lethal Pattern of multiple anomalies

Pena-Shokeir Phenotype is a unique pattern of iethai muitipie maiformation syndrome dispiaying characteristics of muitipie ankyioses camptodactyiy faciai anomaiies abnormai ears hyperteiorism micrognathia and puimonary hypopiasia. Most of them die in-utero or within 1 month after birth. We experienced a case of Pena-Shokeir Syndrome who died within 10 minutes after birth it may have an autsomai recessive or sporadiac pattern.nbsp