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 1 is a 10-year-old boy. He was born to non-consanguineous parents at term by cesarean section. Birth weight was 3.25 kg (normal). He cried immediately after birth. He was referred for evaluation with bilateral club feet and cleft palate noted at birth and hyper-extensibility of both knee joints noted since 4 months of age. He was operated for cleft palate at 15 months of age. He has undergone multiple corrective orthopedic surgeries for clubfeet. He had recurrent lower respiratory tract infections until 2 years of age and he was found to have significant gastroesophageal reflux and was medically treated. After 2 years of age, he had no history suggestive of breathing difficulty or noisy breathing. He achieved head holding at 3 months, sitting at 8 months, walked with support at 15 months and walked without support at 2 years. He started smiling at 4 months, babbling at 5 months, spoke monosyllables at 1 year and bisyllables at 2 years.\nAt 10 years, his height was 132 cm, OFC 52.5 cm and weight 29.3 kg (all are normal for age). He had facial dysmorphism with depressed nasal bridge, mid face hypoplasia, telecanthus and long philtrum (Fig. ). Bilateral subluxation of elbow joints and knees and bilateral club feet were present (Fig. ). He had bilateral 5th finger clinodactyly, spatulate thumbs, broad fingertips, abnormal palmar creases and joint laxity (Fig. ). Hip and wrist joints were normal. Skin, hair, nails and teeth were normal. There was no evidence of hearing defect or compressive myelopathy. Other examinations were unremarkable, such as echocardiography and ophthalmology. At present, he is class four student and is average in studies.\nSkull radiography revealed normal cervical spine (Fig. ). Radiographs were suggestive of supernumerary carpal bones, short metacarpals (Fig. ), normal thoracolumbar spine (Fig. ), bilateral elbow joints dislocation (Fig. ) and cervical-dorsal scoliosis (Fig. ). Radiograph of pelvis with both hips was unremarkable (Fig. ). His complete blood count, serum calcium, serum phosphorous, alkaline phosphatase levels and complete urine analysis were unremarkable.