Congenital Dorsal Nasal Dysplasia: An Autosomal Dominant Aplasia or Hypoplasia of Nasal Bones and Hyperplasia of the Cartilaginous Nasal Dorsum That Can Be Reconstructed Safely by an Open Approach

Abstract

Aplasia or hypoplasia of the nasal bones has been reported infrequently, and at least three reports demonstrate an autosomal dominant inheritance. These noses share a characteristic appearance indicative of an inherited dysplasia of not just the nasal bones (aplasia or hypoplasia) but also the cartilaginous dorsum (hyperplasia).

We studied a 42-year-old woman and her father with aplastic and hypoplastic nasal bones, respectively, and some other family members in two generations. Radiographic findings, family history, photographs of other family members, and operative findings are discussed. Their nasal anomalies probably result from a variably expressed autosomal dominant trait affecting the development of the nasal bones and cartilages in a very characteristic manner. We call this anomaly congenital dorsal nasal dysplasia.

In noses without nasal bones, the open approach optimizes surgical visualization in an effort to maximize the structural integrity of the septum and nasal dorsum. The quadrilateral cartilage–upper lateral cartilage unit provides most of the dorsal support to the upper two-thirds of these unusual noses and should be meticulously reconstructed. Gore-Tex® Soft Tissue Patch is useful for dorsal augmentation of the deep nasofrontal angle often found in these noses and for camouflage of irregularities.