Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly, and cardiac malformations

Abstract

Following genetic counselling of a consanguineous couple because of a daughter born with peripheral hypoplasia of the left arm, ultrasonographic examination during the second pregnancy revealed marked hydrocephalus of the fetus in the 17th week of pregnancy. Pathologic examination of the female fetus disclosed severe cerebral, cardiac, and skeletal malformations including holoprosencephaly, absent corpus callosum, microphthalmia, facial clefts, tetramelic octodactyly, and cardiac defects. These findings indicate a possible genetically determined syndrome that appears to be distinct in spite of some overlap with other malformation syndromes.