title: Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature.
abstract: The Pena Shokeir type I syndrome is considered to be a lethal disorder in most cases. Infrequently, some of the affected children may reach the age of 1 year and beyond. When there is a history of another affected sib, the entity can be suspected prenatally. It is an uncommon autosomal recessive disorder. Out of 33 reported infants reviewed by us, six survived the neonatal period; among a further 27 cases, reported more recently, none survived the neonatal period. The clinical findings at birth are multiple and involve mainly the musculoskeletal and respiratory systems, accompanied by characteristic facial changes. The possibility of a primary hereditary malformation affecting the motor neuron cells of the spinal cord is postulated with the subsequent changes representing a fetal akinesia deformation sequence.
mesh_terms: D000015:Abnormalities, Multiple; D000844:Ankylosis / Q000151:congenital*; D001842:Bone and Bones / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009132:Muscles / Q000002:abnormalities; D009468:Neuromuscular Diseases / Q000151:congenital; D015619:Respiratory System Abnormalities; D013577:Syndrome