Four cases with hypoplastic thumbs and encephaloceles.
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.
Huang
Taosheng
T
Division of Genetics and Metabolism, Children's Hospital, Boston, Massachusetts, USA. huangts@uci.edu
Korson
Mark S
MS
Krauss
Celeste
C
Holmes
Lewis B
LB
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*