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Medical Term:

dysencephalia splanchnocystica

Pronunciation: dis'en-se-fa'le-a splangk'no-sis'ti-ka

Definition: A malformation syndrome, lethal in the perinatal period, and characterized by intrauterine growth retardation, sloping forehead, occipital encephalocele, ocular anomalies, cleft palate, polydactyly, polycystic kidneys, and other malformations; autosomal recessive inheritance. Mapped to human chromosome 17q21–q24.

Synonym(s): Meckel syndrome, Meckel-Gruber syndrome

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.