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PubMed · 912938

Trisomy 9 syndrome.

Q H Qazi·A Masakawa·C Madahar·R Ehrlich
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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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Abnormalities, MultipleBone and BonesChildChromosomes, Human, 6-12 and XDermatoglyphicsFaceFemaleHeart Defects, CongenitalHumansInfantInfant, NewbornIntellectual DisabilityMaleMosaicismSyndromeTrisomyCase ReportsJournal Article

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Q H Qazi, A Masakawa, C Madahar, R Ehrlich. 1977. Trisomy 9 syndrome.. https://doi.org/10.1111/j.1399-0004.1977.tb00930.x

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