Patient 4 is a 6-year-old boy, born to non-consanguineous parents at term by vaginal delivery with birth weight of 2.2 kg (−2 to −3 SD). He cried immediately after birth. He had one healthy elder brother. He was referred for evaluation with bilateral clubfeet, bilateral elbow and knee dislocations noted at birth. He achieved head holding at 5 months, roll over at 8 months, sitting at 9 months, standing at 13 months, walking with support at 15 months, and walking without support at 2 years.\nAt 6 years, his height was 110 cm and weight 22 kg (both normal for age). He had prominent forehead, mid face hypoplasia, telecanthus, downslanting palpebral fissures, and long philtrum (Fig. ). He had long cylindrical fingers with broad fingertips (Fig. ), and mild joint laxity. He also had bilateral elbow and knee dislocation and clubfeet (Fig. ). He had flexion deformity at bilateral elbow with pterygium over cubital fossa (Fig. ). Bilateral hip and wrist joints were normal. Skin, hair, and nails were normal.\nHe had normal cervical spine (Fig. ). Bilateral double ossification of calcaneum (Fig. ), bilateral elbow (Fig. and ) and knee dislocations (Fig. ), and bilateral metatarsus adductus (Fig. ) were noted. Radiographs of hip and thoracolumbar spine were unremarkable (Fig. ). Radiographs at 4 years, 5 years and 6 years of age revealed delayed carpal ossification (Fig. ) and showed abnormal distal phalanx of thumbs and small distal phalanges (Fig. ). Echocardiography was normal. His complete blood count, 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. ).