Otolaryngologic findings in whistling face syndrome

Craniocarpotarsal dysplasia or whistling face syndrome is rare with only 60 cases having been reported in the literature. More than 60 anatomic anomalies of the head, hands, and feet, in addition to the face, have been noted. Although the literature contains numerous case reports describing in detail the various features and abnormalities of the syndrome, the otolaryngologic findings in these patients have yet to be summarized. We present two additional cases in a mother and daughter with an extended follow-up period of 30 and 17 years, respectively, and summarize the otolaryngologic findings in all previously reported cases of this rare syndrome. Also, the principal clinical features and associated features are described.