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 II:2 was the 65-year-old mother of the twins. She had a history of bilateral congenital cataract extractions. Her fundus examination demonstrated bilateral vitreous syneresis with vitreous membranes. Patient II:3 presented with a cleft palate at an early age. Patients IV:3 and IV:4 presented with a history of retinal detachments but no systemic manifestations. We were not able to collect clinical data from the deceased individuals I:1 and I:2, although historical accounts from II:1 revealed her mother (I:2) had a history of retinal problems.