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Clinical Note |

Costello Syndrome and the Importance of Cancer Screening

Neda Ahmadi, MD; Earl Harley, MD
Arch Otolaryngol Head Neck Surg. 2010;136(10):1028-1029. doi:10.1001/archoto.2010.160.
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Costello syndrome is a rare congenital syndrome first described in 1971.1 Since then, approximately 115 cases have been reported in the literature.1 The syndrome presents with failure to thrive, developmental delay, and unique facial characteristics. These include macrocephaly, downward-slanted palpebral fissures, curly hair, low-set ears, depressed nasal bridge, large tongue, and hypertrophied gingiva.2 Overall, these phenotypic features give rise to the characteristic coarse facial appearance.

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Figure 1.

Photograph of our male patient at age 2 years, illustrating the coarse facial features characteristic of Costello syndrome. Notice the relative macrocephaly, curly yet sparse hair, strabismus, downward-slanted palpebral fissures, depressed nasal bridge, and low-set pinnae.

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Figure 2.

Intraoperative endoscopic image of the nasopharynx from the right choana demonstrating the tumor arising from the lateral wall of the nasopharynx.

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