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We have experienced a case of 13-ring chromosome syndrome in 9 month old girl who had
microcephaly, trigonocephaly, hypertelorism, microophthalmia, broad prominent nasal bridge, high
arched palate & speech defect. On X-ray study, brain computerized tomograpy showed Dandy-Walker
variant. Chromosome study revealed 13-ring chromosome. Her mother had mild mental retardation,
short stature, microcephaly, trigonocephaly, hypertelorism and micrognathia. A brief review of the
literatures was also... |
