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  • Title: Trisomy 9 syndrome.
    Author: Qazi QH, Masakawa A, Madahar C, Ehrlich R.
    Journal: Clin Genet; 1977 Oct; 12(4):221-6. PubMed ID: 912938.
    Abstract:
    An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward-slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low-set malformed ears, high-arched palate, congenital heart disease, skeletal and genito-urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and retardation.
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