Abstract
Clinical and autopsy findings in two fetuses and one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal-recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbance.
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics
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Adult
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Anophthalmos / diagnosis*
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Anophthalmos / genetics
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Anus, Imperforate / diagnosis
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Cleft Lip / diagnosis
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Cleft Palate / diagnosis
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Female
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Humans
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Infant, Newborn
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Karyotyping
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Kidney / abnormalities
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Male
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Pregnancy
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Prenatal Diagnosis*
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Syndactyly / diagnosis*
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Syndactyly / genetics
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Syndrome
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Ultrasonography