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 6 is a 39-year-old woman, born to non-consanguineous parents. Normal vaginal delivery took place at full term. Birth measurements were in the normal range. Her parents, sister and brother were unaffected, similar to her first son. Her second son was affected (see patient 7). Congenital club feet were treated with tenotomy of Achilles tendon. Bilateral hip dislocation was treated with several orthopedic surgeries. In early childhood, she could walk with braces. She still had club feet deformity. At the age of 29, she became wheelchair-dependent due to hip dislocation and club feet.\nAt the age of 39 years, physical examination revealed height of 145 cm (−3.5 SD), OFC of 57 cm (−1.8 SD), and weight of 85 kg (+1.8 SD). She had prominent forehead, depressed nasal bridge, long philtrum, and telecanthus (Fig. ). She had bilateral dislocated elbows (Fig. ) and cylindrical fingers with short and broad fingertips and spatulate thumbs (Fig. ). She had bilateral fixed clubfeet deformities with partial syndactyly of toes 2/3 on the right (Fig. ). Wrist joints were normal and there was no pectus deformity. Teeth and nails were normal. Hearing was normal. Numbness of the upper extremities was suggestive of compressive myelopathy. Radiographs confirmed bilateral dislocated elbows (Fig. ), hip dislocation with ossified right hip joint (Fig. ), and deformities of cervical vertebral bodies (Fig. ).