A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (SmithLemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance

Macroscopic Analysis of Fetus Having Arhinencephaly, Synophthalmia and Holoprosencephaly Henriette Poaty1*, David Gentien2, Cecile Reyes2 and Jacques Silou3 1Laboratory of Histology, Embryology and Genetic Medical Faculty, BP 2672, University Marien Ngouabi, Brazzaville, Congo, Africa 2Plateforme Genomics, Department of Translational Research, 26 rue d’Ulm Institut Curie, 75005 Paris, France 3M...

In a case of alobar holoprosencephaly, a neonate who died several minutes after birth was found to have multiple facial and intracranial malformations, including cyclopia. Postmortem MR and CT findings included a single midline orbit, with two globes that contained separate lenses supplied by a single optic nerve. There were two separate superior orbital fissures and two separate lateral rectus...