Holoprosencephaly and primary craniosynostosis: the Genoa syndrome

Am J Med Genet. 1993 Dec 1;47(8):1161-5. doi: 10.1002/ajmg.1320470806.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Craniosynostoses / diagnostic imaging
  • Craniosynostoses / genetics*
  • Female
  • Fetus / abnormalities
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Holoprosencephaly / diagnostic imaging
  • Holoprosencephaly / genetics*
  • Humans
  • Infant, Newborn
  • Syndrome
  • Tomography, X-Ray Computed
  • Ultrasonography