Pathologic features in two siblings with the Pena-Shokeir I syndrome.
Two siblings whose clinical and pathologic features were consistent with the "Syndrome of camptodactyly, multiple ankyloses and pulmonary hypoplasia" originally described by Pena and Shokeir were examined at autopsy. Additional features were intrauterine growth retardation, immaturity of the central nervous system (CNS) and atrophy of skeletal muscles. Our data suggest that CNS damage may cause the complicated phenotypic abnormalities of the syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001176:Arthrogryposis / Q000235:genetics*; D002490:Central Nervous System / Q000473:pathology; D003238:Connective Tissue / Q000473:pathology; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008297:Male; D013577:Syndrome