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Clinical Note |

Nasal Abnormalities in the 9p Deletion Syndrome

Giacomo Ceroni Compadretti, MD; Ignazio Tasca, MD; Anna Baroncini, MD; Maria C. Pittalis, PhD
Arch Otolaryngol Head Neck Surg. 2007;133(10):1054-1056. doi:10.1001/archotol.133.10.1054.
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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

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Figure 1.

G-banded karyotype of the proposita. The arrow points to deletion p23 on chromosome 9.

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Figure 2.

Fluorescence in situ hybridization analysis on metaphase chromosomes with subtelomeric probes specific for the short arm (green) and long arm (red) of chromosome 9. The arrow points to the deleted chromosome.

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Figure 3.

Our patient manifests some of the phenotypic features of the 9p deletion syndrome, such as long philtrum, low-set ears, telecanthus, flat nasal bridge, and slight metopic prominence.

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