A 7-year-old female presented with a longstanding history of bilateral hearing loss, more noticeable on the right side. She had a recent diagnosis of Larsen syndrome, and was homozygous for the CHST3 gene, for which the inheritance is autosomal recessive. She did not have a filamin B mutation.\nThere was no evidence of facial dysmorphia, although she had skeletal dysplasia and congenital right-sided hip and knee dislocations. Furthermore, she had previous left hip and knee subluxations, and hallux valgus. Prior echocardiography had revealed thickened aortic valve cusps.\nOn examination, she was noted to have narrow ear canals, with grade 1 microtia. She had bilateral middle ear effusions in keeping with glue ear. After a period of active surveillance, her glue ear resolved, but she continued to have a hearing deficit, with a right-sided mild conductive hearing loss with thresholds of ∼40 dB.\nAt this stage, a computed tomography (CT) scan of the temporal bone was undertaken. The stapes was maloriented on the oval window; however, the other ossicles appeared normal (see Figs and ). There was no middle ear effusion at the time of the CT scan.\nAfter discussions regarding the options for management, she was managed conservatively. She did not require hearing aids.
Patient III:2 was a 40-year-old woman and the monozygotic twin sister of III:3. Patient III:2 presented with moderate myopia and underwent retinal surgeries at the age of 18 (OD) and 33 (OS) for retinal detachment (OD) and epiretinal membrane and large retinal tears (OS). Subsequently, she was treated with extensive peripheral prophylactic photocoagulation. She underwent cataract extractions bilaterally at the age of 37 (OS) and 38 (OD). Fundus examination revealed bilateral radial lattice degeneration and bilateral vitreous syneresis. She had no history of systemic manifestations.