Holoprosencephaly, Semilobar, With Craniosynostosis

Camera et al. (1993) described a girl with semilobar holoprosencephaly, confirmed by computer tomography, and primary craniosynostosis involving the coronal and lambdoid sutures. No abnormalities of visceral organs were reported. At the age of 3 years, she demonstrated small vertebral bodies, coxa valga, and hypoplastic terminal phalanges of fingers. Ultrasonographic examination of the fetus during a second pregnancy of the couple showed an association of semilobar holoprosencephaly and craniosynostosis. The face was nondiagnostic of holoprosencephaly in both sibs. Camera et al. (1993) named this possibly autosomal recessive complex of primary craniosynostosis and holoprosencephaly the Genoa syndrome.