Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome.
Metacarpophalangeal pattern profile (MCPP) was determined in 49 radiographs of 40 patients with Rubinstein-Taybi syndrome. Two recognizable hand profiles were seen, depending on the configuration of the thumb and on age. Patients with a straight thumb showed a short first proximal phalanx, and short third medial phalanx. Patients with a radially deviated thumb had a short first proximal phalanx. Depending on age, a relatively large (infancy) or markedly short (older patients) first distal phalanx was found. The similarity between the patients was high. A third group of patients did not show a particular hand profile, but only small hand bones. The pattern variability indices were high in all groups of patients. MCPP analysis in Rubinstein-Taybi syndrome seems to be a powerful, but not pathognomonic, diagnostic tool.
Hennekam
R C
RC
Clinical Genetics Center, Utrecht, The Netherlands.
Van Den Boogaard
M J
MJ
Dijkstra
P F
PF
Van de Kamp
J J
JJ
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006226:Hand Deformities / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008297:Male; D008663:Metacarpus / Q000002:abnormalities / Q000000981:diagnostic imaging; D008875:Middle Aged; D011859:Radiography; D012415:Rubinstein-Taybi Syndrome / Q000000981:diagnostic imaging*; D013933:Thumb / Q000002:abnormalities / Q000000981:diagnostic imaging