Further delineation of Weaver syndrome.
Seven new cases of Weaver syndrome are described, including the first reported case in an adult. Overgrowth is usually but not always present. The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the distal long bones, is diagnostic of Weaver syndrome.
Ardinger
H H
HH
Hanson
J W
JW
Harrod
M J
MJ
Cohen
M M
MM
Tibbles
J A
JA
Welch
J P
JP
Young-Wee
T
T
Sommer
A
A
Goldberg
R
R
Shprintzen
R J
RJ
D000328:Adult; D001846:Bone Development; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis*; D005149:Facial Expression; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013577:Syndrome