Figure 1: Small cephalocele in a fetus with Walker-Warburg syndrome. The previous child of this family was similarly affected.
Genetic anomalies: Defect of 9q31.
Associated anomalies: Cleft lip and genital malformations may occasionally be found.
Differential diagnosis: Anomalies associated with lissencephaly such as Miller-Dieker and Neu-Laxova are major differential diagnoses. Other disorders that should be excluded are Meckel syndrome, Fryns syndrome, trisomies 18 and 13, severe Fukuyama-type congenital muscular dystrophy (FCMD) (1) and maternal viral infections.
Recurrence Risk: The recurrence risk for couples with previously affected children is 25%.
Prognosis: Most of the newborns affected by Walker-Warburg syndrome die within the first year of life. Of those few who survive until 5 years of age, the majority have severe mental and developmental retardation.
Management: When detected before viability, termination of pregnancy can be offered. After viability, standard prenatal care is not altered.
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