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 2 is a 3-year-old boy, born to second degree consanguineous parents at term by cesarean section, in view of prolonged labor. Birth weight was 2.5 kg (−2 SD). He cried immediately after birth. He is the only child of his parents. Maternal antenatal scan at 6 months of gestation was suggestive of fetal limb deformity that was confirmed after birth. He was referred for evaluation of deformity of bilateral feet, elbows and right knee noted since birth. At birth, he was also found to have cleft palate for which he was operated at 1 year of age.\nAt 6 weeks, his height was 52 cm (−2 SD), OFC 37 cm (−2 SD) and weight 3.3 kg (−2 SD). He had prominent forehead, depressed nasal bridge, long philtrum, telecanthus (Fig. ), and high arched palate. His hair was curly (Fig. ), teeth and nails were normal. Hypermobility of bilateral hip joints was noted along with bilateral dislocated knees, elbows and bilateral clubfeet (Fig. ). He had spatulate thumbs (Fig. ), cylindrical fingers (Fig. ) with short and broad fingertips, and joint laxity. Hearing was normal. There was no evidence of compressive myelopathy. All other examinations were unremarkable. Echocardiography showed normal heart. He achieved head control at 5 months, roll over at 7 months, sitting with support at 10 months, sitting without support at 15 months, crawling at 20 months. He started babbling at 6 months, spoke bisyllables at 15 months and few words with meaning at 20 months.\nRadiograph of skull was unremarkable (Fig. ). Ultrasound of knees at 6 weeks of age suggested absent right patella. Radiographs showed bilateral dislocated elbows (Fig. ), absent right patella (Fig. ), coronal clefts in vertebrae (Fig. ), cervical vertebral kyphosis with subluxation at C4-C5 (Fig. ), and double calcaneum ossification with club feet (Fig. ). Radiographs at 3 months (Fig. and i) and 1 year (Fig. ) suggested delayed carpal ossification. Radiographs at 3 months and 1 year showed thoracolumbar scoliosis (Fig. ) and small capital femoral epiphysis (Fig. ). Thyroid profile was done in view of delayed bone age and was found to be normal. His complete blood counts, serum calcium, serum phosphorous, alkaline phosphatase, and complete urine analysis were normal.