Patient 5 is a 42-year-old man, the second son of unaffected and non-consanguineous parents. He was born, followed by unremarkable pregnancy, at 40 weeks of gestation with a birth weight of 3,580 g (+0.37 SD), length of 52 cm (+0.19 SD) and OFC of 37 cm (+1.92 SD). At birth, he presented with dislocation of knee joints, anterior dislocation of the tibia, bilateral pronounced club feet, and distinct dislocation of both hips. Facial dysmorphism with a flat face and nose, prominent forehead, telecanthus, and myopia was noted (Fig. ). He had broad distal phalanges of the hands (Fig. ), supernumerary carpal bones, and 13 pairs of ribs. During the neonatal period, knee dislocation was treated with manipulation and cast application. Later, club feet were treated with metatarsal osteotomy with posterior soft tissue release. The correction of feet was maintained with feet orthosis until 14 years of age. An arthrodesis of the right knee joint was performed for chronic pain. He later developed a cervical scoliosis with occipito-craniocervical instability. Cervical spine instability was treated with occipitocervical fusion and a return displacement of the soft palate was conducted. No abnormalities of the cardiovascular system were observed. At the age of 37 years, he developed chronic myeloid leukemia. The patient holds a degree in natural science. He is severely limited in his mobility due to the skeletal abnormalities.
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.