J Korean Cleft Palate-Craniofac Assoc.  2004 Apr;5(1):61-64.

Surgical Treatment of Choanal Stenosis Associated with Craniodiaphyseal Dysplasia

• Jeon BJ
• Hyon WS
• Lim SY
• Lee JH
• Mun GH
• Bang SI
• Oh KS

Abstract

Craniodiaphyseal dysplasia is a rare genetic disorder of bone due to modelling errors of long bones and skull bones. Facial and cranial thickening and distortion are particularly striking in this form. The genetic understanding of this disorder is unsatisfactory. We present one case of Craniodiaphyseal dysplasia involving facial bone, skull that causes nasal obstruction. This 3-year old female who was diagnosed of craniodiaphyseal dysplasia presented abnormal facial figuring, which is excessively thickened cortical bone resulting in very large craniofacial bony structure. The patient sufferred from respiratory difficulty due to complete obstruction of choana. We performed surgical recanalization of choanal atresia by transpalatal approach and gained good postoperative result.

Keyword

Craniodiaphyseal dysplasia; Choanal atresia

MeSH Terms

Child, Preschool
Choanal Atresia
Constriction, Pathologic*
Facial Bones
Female
Humans
Nasal Obstruction
Skull
Strikes, Employee