Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome.
Metacarpophalangeal pattern profile (MCPP) was analyzed in 14 Japanese children (mean age 6.7 years old) with Sotos syndrome. The patients were divided into 2 groups based on age; group 1 (n = 8): 6 years or over; group 2 (n = 6): less than 6 years. The mean values of standard deviation of the 14 patients with obviously large hand were all above 1.4. The MCPP in group 1 showed (1) two major peaks in metacarpal and proximal phalangeal areas, (2) a small peak in middle phalangeal area, and (3) relatively short distal phalangeal bones compared with the metacarpal and proximal phalangeal bones. The MCPP in group 2 was similar to that in group 1, but an additional peak was observed in distal phalangeal area. The MCPP of Japanese patients showed a quite similar pattern to that of Caucasian patients, and we conclude the method can also be a useful tool in the diagnosis of the Japanese patients. In correlation study, 8 of the 14 patients had a significant positive correlation, but 2 patients in group 2, less than 3 years, had no positive correlation. We suggest the method is not applicable to young patients less than 3 years.
Division of Medical Genetics, Kanagawa Children's Medical Center, Japan.
Y
Y
Takahashi
K
K
Imaizumi
F
F
Takada
Y
Y
Kuroki
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005877:Gigantism / Q000175:diagnosis*; D006225:Hand; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome