title: Four cases with hypoplastic thumbs and encephaloceles.
abstract: We report on four infants with hypoplastic thumbs and occipital encephaloceles. None had either a chromosome abnormality or a family history of any major malformation. The literature and database were searched intensively. No similar cases were reported previously, suggesting that the constellations might represent a new genetic syndrome.
authors.affiliation: Division of Genetics and Metabolism, Children's Hospital, Boston, Massachusetts, USA. huangts@uci.edu
authors.forename: Taosheng
authors.initials: T
authors.lastname: Huang
authors.forename: Mark S
authors.initials: MS
authors.lastname: Korson
authors.forename: Celeste
authors.initials: C
authors.lastname: Krauss
authors.forename: Lewis B
authors.initials: LB
authors.lastname: Holmes
mesh_terms: D000328:Adult; D004677:Encephalocele / Q000000981:diagnostic imaging*; D005260:Female; D006130:Growth Disorders; D006226:Hand Deformities / Q000000981:diagnostic imaging*; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009777:Occipital Bone / Q000002:abnormalities; D011859:Radiography; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*