Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome

• Published in: Maxillofacial plastic and reconstructive surgery Vol. 40; no. 1; pp. 40 - 8
• Main Authors: Cha, Bong Kuen, Choi, Dong Soon, Jang, In San, Yook, Hyun Tae, Lee, Seung Youp, Lee, Sang Shin, Lee, Suk Keun
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.12.2018; SpringerOpen; 대한악안면성형재건외과학회
• Subjects: Anterior cranial base; Apert syndrome; Case Report; Dentistry; Medicine; Midface hypoplasia; Oral and Maxillofacial Surgery; Plastic Surgery; Retruded zygomatic axes; 치의학; Midface hypoplasia; Retruded zygomatic axes; Apert syndrome; Anterior cranial base
• ISSN: 2288-8101; 2288-8586; 2288-8586
• DOI: 10.1186/s40902-018-0179-8

Background A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery of frontal calvaria distraction osteotomy to treat the steep forehead at 6 months old, and a surgery of digital separation to treat severe syndactyly of both hands at 6 years old. Nevertheless, he still showed a turribrachycephalic cranial profile with proptosis, a horizontal groove above supraorbital ridge, and a short nose with bulbous tip. Methods Fundamental aberrant growth may be associated with the cranial base structure in radiological observation. Results The Apert syndrome patient had a shorter and thinner nasal septum in panthomogram, PA view, and Waters’ view; shorter zygomatico-maxillary width (83.5 mm) in Waters’ view; shorter length between the sella and nasion (63.7 mm) on cephalogram; and bigger zygomatic axis angle of the cranial base (118.2°) in basal cranial view than a normal 9-year-old male (94.8 mm, 72.5 mm, 98.1°, respectively). On the other hand, the Apert syndrome patient showed interdigitating calcification of coronal suture similar to that of a normal 30-year-old male in a skull PA view. Conclusion Taken together, the Apert syndrome patient, 9 years old, showed retarded growth of the anterior cranial base affecting severe midface hypoplasia, which resulted in a hypoplastic nasal septum axis, retruded zygomatic axes, and retarded growth of the maxilla and palate even after frontal calvaria distraction osteotomy 8 years ago. Therefore, it was suggested that the severe midface hypoplasia and dysostotic facial profile of the present Apert syndrome case are closely relevant to the aberrant growth of the anterior cranial base supporting the whole oro-facial and forebrain development.