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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Achondroplasia, the most common cause of chondrodysplasia in man, is characterized by short-limbed dwarfism, macrocephaly, and dysplasia of metaphyses of the tubular bones. Recently, mutations in the gene encoding fibroblast growth factor receptor-3 (FGFR-3) have been found in patients with achondroplasia. All mutations so far reported had occurred at codon 380, resulting in the substitution of an arginine for a glycine in the transmembrane domain of the predicted protein. We have examined the transmembrane domain of the FGFR-3 gene in seven Japanese patients with achondroplasia. Of the six cases that were sporadic, all carried a mutation in codon 380; the single familial case bore a novel mutation of a G-to-T transition at codon 375, which resulted in substitution of a cysteine for a glycine.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1435-232X
    Keywords: asphyxiating thoracic dystrophy ; Jeune syndrome ; surgical treatment ; Todd's thoracic expansion technique ; long-term prognosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 15-month-old girl under mechanical ventilation with asphyxiating thoracic dystrophy underwent surgical thoracic expansion according to the procedure of Toddet al. (1986). Now age 4 years, she is free from respiratory distress, is of normal intelligence, and leads an active life.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1435-232X
    Keywords: metacarpophalangeal pattern profile (MCPP) ; Sotos syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary 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.
    Type of Medium: Electronic Resource
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