Meckel-Gruber syndrome. A lethal combination of abnormalities.
We herein describe two cases of Meckel-Gruber Syndrome identified in stillborn infants. Both had all three elements of the classical triad, namely, occipital encephalocele, renal cystic dysplasia and post-axial polydactyly. In addition, many of the other well-known accompanying abnormalities were present. Awareness of this entity in this region is important because of its high risk of recurrence in subsequent pregnancies.
Coard
K C
KC
Department of Pathology, U.W.I., Jamaica.
Escoffery
C T
CT
D003937:Diagnosis, Differential; D004677:Encephalocele / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005313:Fetal Death; D005385:Fingers / Q000002:abnormalities*; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy