Medical Term:
dysencephalia splanchnocystica
Pronunciation: dis′en-se-fā′lē-ă splangk′nō-sis′ti-kă
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
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