Ring chromosome 9 syndrome

Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.

Low-set ears

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.


Total: 1

                      


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PMID (PMCID)
24551976
MALE Infant, Newborn
Ring chromosome 9 in a newborn.
Aldemir O, Celik IH, Karaer K, Ceylaner G.
Genet Couns. 2013;24(4):357-60.
We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis.