Roentgenologic features of the Meckel syndrome.
The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs. Microcephaly with an occipital bone defect and encephalocele or hydrocephaly [1/6], short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities