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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.
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INTRODUCTION
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
Cytogenesis investigations have demonstrated that the most common breakpoint is in band 9p22, with the deletion being de novo in approximately half of the cases and due to unbalanced rearrangements in the . . . [Full Text of this Article]
REPORT OF A CASE
COMMENT
AUTHOR INFORMATION
Author Affiliations: Departments of Otorhinolaryngology (Drs Ceroni Compadretti and Tasca) and Genetics (Dr Baroncini), Imola Hospital, Imola, and Cytogenetic Laboratory, Department of Obstetrics and Gynecology, University of Bologna, Bologna (Dr Pittalis), Italy.
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