Hereditary Agenesis of Nasal Cartilage: Surgical Implications

In the evaluation of a patient for cosmetic surgery, an underlying congenital origin for the deformities noted, with possible expression in multiple organ systems, should always be considered. In this case, a 19-year-old woman requesting rhinoplasty exhibited facial anomalies: lack of quadrangular and lower lateral cartilages, small bony dorsum, underdeveloped aural cartilage, and infantile larynx and trachea. Otherwise healthy, she recalled having recurrent bouts of croup until she was 15 years old, exercise limitation secondary to stridor, and a family history of nasal hypoplasia. Genetic referral diagnosed her condition as Opitz-BBB/G compound syndrome (oculogenitolaryngeal syndrome), and we here review its head and neck manifestations. Suspected agenesis of nasal cartilage, unreported in previous literature (to our knowledge), was confirmed intraoperatively and presented a unique challenge for reconstruction, including a restricted choice of anesthesia and a need for banked cartilage. (Arch Otolaryngol Head Neck Surg. 1989;115:985-988)