title: A severe case of Pfeiffer syndrome associated with stub thumb on the maternal side of the family.
abstract: We report a severe case of Pfeiffer syndrome with an early demise. The mother and her own father had unilateral stub thumb, which was inherited as a coincidental autosomal dominant trait. Although the affected thumb was short, it was not broad and neither family member had any features of Pfeiffer syndrome. We conclude that our patient represents a new Pfeiffer syndrome mutation.
authors.affiliation: Department of Pedodontics, Royal Dental College, Copenhagen, Denmark.
authors.forename: S
authors.initials: S
authors.lastname: Kreiborg
authors.forename: M M
authors.initials: MM
authors.lastname: Cohen
mesh_terms: D000168:Acrocephalosyndactylia / Q000473:pathology*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*