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 6 is a 39-year-old woman, born to non-consanguineous parents. Normal vaginal delivery took place at full term. Birth measurements were in the normal range. Her parents, sister and brother were unaffected, similar to her first son. Her second son was affected (see patient 7). Congenital club feet were treated with tenotomy of Achilles tendon. Bilateral hip dislocation was treated with several orthopedic surgeries. In early childhood, she could walk with braces. She still had club feet deformity. At the age of 29, she became wheelchair-dependent due to hip dislocation and club feet.\nAt the age of 39 years, physical examination revealed height of 145 cm (−3.5 SD), OFC of 57 cm (−1.8 SD), and weight of 85 kg (+1.8 SD). She had prominent forehead, depressed nasal bridge, long philtrum, and telecanthus (Fig. ). She had bilateral dislocated elbows (Fig. ) and cylindrical fingers with short and broad fingertips and spatulate thumbs (Fig. ). She had bilateral fixed clubfeet deformities with partial syndactyly of toes 2/3 on the right (Fig. ). Wrist joints were normal and there was no pectus deformity. Teeth and nails were normal. Hearing was normal. Numbness of the upper extremities was suggestive of compressive myelopathy. Radiographs confirmed bilateral dislocated elbows (Fig. ), hip dislocation with ossified right hip joint (Fig. ), and deformities of cervical vertebral bodies (Fig. ).