Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.
This article provides an overview of the major pathologic manifestations of Meckel-Gruber syndrome, current knowledge about its pathogenesis, minimal diagnostic criteria, and differential diagnosis. Typical sonographic findings (occipital encephalocele, postaxial polydactyly, and cystic enlargement of the kidneys) allow for diagnosis of most cases before the 14th week of gestation, but the pathologist may encounter clinically unsuspected or atypical cases that require morphologic confirmation. In these cases, a meticulous autopsy is necessary to establish the diagnosis of Meckel-Gruber syndrome.
Alexiev
Borislav A
BA
Department of Pathology, University of Maryland Medical System, Baltimore, Maryland 21201, USA. balexiev@comcast.net
Lin
Xiaoqing
X
Sun
Chen-Chih
CC
Brenner
David S
DS
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology*; D002493:Central Nervous System Diseases / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000000981:diagnostic imaging / Q000196:embryology; D005315:Fetal Diseases / Q000175:diagnosis*; D005808:Genes, Recessive; D006801:Humans; D008099:Liver / Q000002:abnormalities; D021782:Multicystic Dysplastic Kidney / Q000000981:diagnostic imaging / Q000196:embryology; D017044:Polycystic Kidney, Autosomal Recessive / Q000000981:diagnostic imaging / Q000196:embryology; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000196:embryology; D013577:Syndrome; D014463:Ultrasonography