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.
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. ).