Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome

Midface hypoplasia is a major manifestation of Apert syndrome. However, the tissue component responsible for midface hypoplasia has not been elucidated. We studied mice with a chondrocyte-specific Fgfr2S252W mutation (Col2a1-cre; Fgfr2S252W/+) to investigate the effect of cartilaginous components in midface hypoplasia of Apert syndrome. In Col2a1-cre; Fgfr2S252W/+ mice, skull shape was normal at birth, but hypoplastic phenotypes became evident with age. General dimensional changes of mutant mice were comparable with those of mice with mutations in EIIa-cre; Fgfr2S252W/+, a classic model of Apert syndrome in mice. Col2a1-cre; Fgfr2S252W/+ mice showed some unique facial phenotypes, such as elevated nasion, abnormal fusion of the suture between the premaxilla and the vomer, and decreased perpendicular plate of the ethmoid bone volume, which are related to the development of the nasal septal cartilage. Morphological and histological examination revealed that the presence of increased septal chondrocyte hypertrophy and abnormal thickening of nasal septum is causally related to midface deformities in nasal septum-associated structures. Our results suggest that careful examination and surgical correction of the nasal septal cartilage may improve the prognosis in the surgical treatment of midface hypoplasia and respiratory problems in patients with Apert syndrome.

Clinical Findings in an Asian Family with Axenfeld-Rieger Syndrome

A case of 46-year-old male is presented who came with complaints of painless, progressive deterioration of vision in both eyes and he was using Latanoprost and Cosopt eye drops in both eyes. His visual acuity was 6/60 in right eye and perception of light in left eye. The intraocular pressures were 28 mm Hg (OD) and 18 mm Hg (OS). There was iridocorneal adhesion and posterior embryotoxon in his right eye and leucoma in left eye. Cup-disc ratio was 0.7. He had hypodontia, midface hypoplasia, hypertelorism, and telecanthus. Family history was also positive. His sister also had iris stromal hypoplasia along with posterior embryotoxon. A diagnosis of Axenfeld Rieger Syndrome was made The patient underwent glaucoma drainage devise (AGV) surgery in his right eye. Post operative pressures were 10mm Hg. He was later referred to maxillofacial surgeon, cardiologist and counseled for avoiding cross marriages to prevent this inherited disease