The prenatal diagnosis of the Walker-Warburg syndrome.
On the basis of physical features and autopsy findings, a child with congenital hydrocephalus, bilateral microphthalmia, myopathy, severe developmental retardation and multiple brain malformations was diagnosed to have the Walker-Warburg Syndrome (WWS). During a subsequent pregnancy in this family, a fetus at risk for this autosomal recessive condition was evaluated with serial ultrasound examinations. At 15 weeks of gestation an encephalocele was noted. Disproportionately slow growth of the head compared to the body was noted at 36 weeks. At birth, the diagnosis of WWS was confirmed in the child due to the presence of microcephaly, an encephalocele, a meningocele and bilateral microphthalmia. This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are hydrocephalus, multiple central nervous system malformations, microphthalmia with ocular malformations, severe psychomotor retardation, congenital myopathy and a very limited life expectancy.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D004677:Encephalocele / Q000175:diagnosis; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008588:Meningocele / Q000175:diagnosis; D008831:Microcephaly / Q000175:diagnosis; D008850:Microphthalmos / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography