title: Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
abstract: 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 (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.
authors.affiliation: Centre for Human Genetics, Liège University, CHU Sart-Tilman, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: S
authors.initials: S
authors.lastname: Aymé
authors.forename: D
authors.initials: D
authors.lastname: Gambarelli
authors.forename: M
authors.initials: M
authors.lastname: Gonzales
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: N
authors.initials: N
authors.lastname: Mulliez
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: J
authors.initials: J
authors.lastname: Roume
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005315:Fetal Diseases / Q000175:diagnosis; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D016142:Holoprosencephaly / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011296:Prenatal Diagnosis; D013577:Syndrome; D013796:Thanatophoric Dysplasia / Q000175:diagnosis; D014314:Trisomy