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Am J Med Genet ; 28(3): 619-24, 1987 Nov.
Article in English | MEDLINE | ID: mdl-3122570

ABSTRACT

Lissencephaly, hydrocephalus, and eye abnormalities characterize patients with the Walker-Warburg syndrome, an uncommon autosomal recessive condition. Encephaloceles occur in about 50% of patients. We describe the prenatal diagnosis of this condition based on the ultrasonographic findings of retinal detachment, hydrocephalus, and an encephalocele in a fetus not known to be at risk.


Subject(s)
Abnormalities, Multiple/diagnosis , Encephalocele/diagnosis , Eye Abnormalities , Fetal Diseases/diagnosis , Hydrocephalus/diagnosis , Prenatal Diagnosis , Retinal Detachment/diagnosis , Abnormalities, Multiple/genetics , Encephalocele/genetics , Female , Fetal Diseases/genetics , Genes, Recessive , Humans , Hydrocephalus/genetics , Infant, Newborn , Pregnancy , Retinal Detachment/genetics , Syndrome , Ultrasonography
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