Copyright 2007 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2007
First described in 1973 by Alfi et al,1 the 9p deletion syndrome is a well-recognized (although rare) clinical entity reported in slightly more than 100 cases to date. The head and neck are always involved, typically manifesting long philtrum, microstomia, short-appearing neck, trigonocephaly, epicanthal folds, anteverted nares, midface hypoplasia, upslanting palpebral fissures, and posteriorly angulated and poorly formed ears. Other phenotypical characteristics include hypotonia, widely spaced nipples, mental retardation, square hyperconvex nails, dolichomesophalangy, and an excess of whorls on the fingers.2 Furthermore, ambiguous genitalia and male-to-female primary sex reversal have been reported in patients with a normal Y chromosome and a terminal 9p deletion.3,4
Compadretti GC, Tasca I, Baroncini A, Pittalis MC. Nasal Abnormalities in the 9p Deletion Syndrome. Arch Otolaryngol Head Neck Surg. 2007;133(10):1054–1056. doi:10.1001/archotol.133.10.1054
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