title: Recurrence of Pallister-Hall syndrome in two sibs.
abstract: We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a dominant gene.
authors.affiliation: Respiratory Unit, Royal Liverpool Children's Hospital, Alder Hey, UK.
authors.forename: H M
authors.initials: HM
authors.lastname: Thomas
authors.forename: P J
authors.initials: PJ
authors.lastname: Todd
authors.forename: D
authors.initials: D
authors.lastname: Heaf
authors.forename: A E
authors.initials: AE
authors.lastname: Fryer
mesh_terms: D000015:Abnormalities, Multiple; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006222:Hamartoma; D006257:Head / Q000002:abnormalities; D006801:Humans; D007018:Hypopituitarism; D007027:Hypothalamic Diseases / Q000151:congenital; D007231:Infant, Newborn; D008297:Male; D009679:Nuclear Family; D017689:Polydactyly; D013577:Syndrome