Trisomy 9 syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D013577:Syndrome; D014314:Trisomy