[The differential diagnosis of the Meckel syndrome and the Ellis-van-Creveld syndrome with encephalocele (author's transl)].
The differential diagnosis of Meckel's syndrome and Ellis-van-Creveld's syndrome with encephalocele is summarized utilizing two own observations. Radiographic criteria are of special importance. In EvCS typical signs of chondrodysplasia are present whereas in MS we found pelvic changes similar to Down's syndrome and striking rhomboid deformities of the tibiae. Clinically relevant is ectodermal dyplasia in EvCS, especially, when cystic kidneys in MS are not palpable.
D003937:Diagnosis, Differential; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D004677:Encephalocele / Q000175:diagnosis*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008831:Microcephaly / Q000150:complications; D010388:Pelvis / Q000002:abnormalities; D007690:Polycystic Kidney Diseases / Q000175:diagnosis*; D011859:Radiography; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities
Zur Differentialdiagnose des Meckel-Syndroms und des Ellis-van-Creveld-Syndroms mit Enzephalozele