Holoprosencephaly and primary craniosynostosis: the Genoa syndrome.
We report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynotosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance.
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Center for Human Genetics, Galliera Hospital, Gaslini Institute, Genoa, Italy.
Lituania
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Cohen
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D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D016142:Holoprosencephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography