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Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome
Y Takahashi1, K Imaizumi, F Takada
1Division of Medical Genetics, Kanagawa Children's Medical Center, Japan.
Insights
Metacarpophalangeal pattern profile (MCPP) analysis in Japanese children with Sotos syndrome reveals distinct hand bone growth patterns. This method is useful for diagnosis in children over 3 years old.
Area of Science:
- Pediatric genetics
- Orthopedic diagnostics
- Medical imaging analysis
Background:
- Sotos syndrome is a genetic disorder characterized by overgrowth and distinctive facial features.
- Hand bone morphology can provide insights into genetic conditions.
- Metacarpophalangeal pattern profile (MCPP) is a radiographic method for analyzing hand bone proportions.
Purpose of the Study:
- To analyze the Metacarpophalangeal pattern profile (MCPP) in Japanese children diagnosed with Sotos syndrome.
- To evaluate the utility of MCPP as a diagnostic tool for Sotos syndrome in this population.
- To compare MCPP findings between different age groups of affected children.
Main Methods:
- Retrospective analysis of hand radiographs from 14 Japanese children with Sotos syndrome.
- Categorization of patients into two age groups: 6 years and older (Group 1) and younger than 6 years (Group 2).
- Calculation and comparison of MCPP values, including standard deviations and peak analysis.
Main Results:
- All 14 patients exhibited significantly large hands with standard deviation values above 1.4.
- Group 1 (≥6 years) showed MCPP peaks in metacarpal and proximal phalangeal areas, a smaller peak in the middle phalangeal area, and relatively short distal phalanges.
- Group 2 (<6 years) displayed similar patterns but with an additional peak in the distal phalangeal area. MCPP patterns were similar to those observed in Caucasian patients.
- Significant positive correlation was found in 8 patients, but not in 2 patients under 3 years old.
Conclusions:
- MCPP analysis reveals characteristic hand bone growth patterns in Japanese children with Sotos syndrome, similar to Caucasian populations.
- The MCPP method is a potentially valuable diagnostic tool for Sotos syndrome in Japanese children over 3 years of age.
- The MCPP method may not be reliable for diagnosing Sotos syndrome in very young children (under 3 years).
Abstract:
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.