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.
Patient 3 is a 9-year-old female, born to third degree consanguineous parents at term by cesarean section for breech presentation. Birth weight was 3.25 kg (normal). She cried immediately after birth. She was referred for evaluation in view of bilateral dislocation of hip and knee joints and bilateral clubfeet. She has undergone multiple corrective orthopedic surgeries for club feet and hip dislocation. She started walking at 1 year and spoke simple sentences at 2 years.\nAt 2 years and 2 months, her height was 90 cm, OFC 48.5 cm and weight 11 kg (all are normal for age). She had prominent forehead, depressed nasal bridge, and telecanthus (Fig. ). She had spatulate thumbs, broad fingertips (Fig. ), and joint laxity. Joint laxity was noted in both knee joints (Fig. ), bilateral club feet and broad great toes were also noted (Fig. ). Bilateral elbow and wrist joints were normal. Skin, hair, and nails were normal. At 9 years of age, there was no evidence of hearing defect or compressive myelopathy. She is presently in 3rd grade and is good at studies.\nRadiographs revealed cervical kyphosis, subluxation at C3-C4 (Fig. ), and failure of fusion of posterior elements of cervical spine with mild scoliosis (Fig. ). Accessory calcaneal ossification (Fig. ) and clubfeet with metatarsus adductus (Fig. ) were also noted. Advanced carpal ossification was seen in radiographs at 22 months (Fig. ) of age though carpal ossification was age appropriate at 4 years and 7 months (Fig. ). She had normal right hip joint but increased medial joint space on left hip joint (Fig. ). Echocardiography was normal. Her complete blood counts, serum calcium, serum phosphorous, alkaline phosphatase, thyroid profile, and complete urine analysis were unremarkable.