Patient 2 is a 3-year-old boy, born to second degree consanguineous parents at term by cesarean section, in view of prolonged labor. Birth weight was 2.5 kg (−2 SD). He cried immediately after birth. He is the only child of his parents. Maternal antenatal scan at 6 months of gestation was suggestive of fetal limb deformity that was confirmed after birth. He was referred for evaluation of deformity of bilateral feet, elbows and right knee noted since birth. At birth, he was also found to have cleft palate for which he was operated at 1 year of age.\nAt 6 weeks, his height was 52 cm (−2 SD), OFC 37 cm (−2 SD) and weight 3.3 kg (−2 SD). He had prominent forehead, depressed nasal bridge, long philtrum, telecanthus (Fig. ), and high arched palate. His hair was curly (Fig. ), teeth and nails were normal. Hypermobility of bilateral hip joints was noted along with bilateral dislocated knees, elbows and bilateral clubfeet (Fig. ). He had spatulate thumbs (Fig. ), cylindrical fingers (Fig. ) with short and broad fingertips, and joint laxity. Hearing was normal. There was no evidence of compressive myelopathy. All other examinations were unremarkable. Echocardiography showed normal heart. He achieved head control at 5 months, roll over at 7 months, sitting with support at 10 months, sitting without support at 15 months, crawling at 20 months. He started babbling at 6 months, spoke bisyllables at 15 months and few words with meaning at 20 months.\nRadiograph of skull was unremarkable (Fig. ). Ultrasound of knees at 6 weeks of age suggested absent right patella. Radiographs showed bilateral dislocated elbows (Fig. ), absent right patella (Fig. ), coronal clefts in vertebrae (Fig. ), cervical vertebral kyphosis with subluxation at C4-C5 (Fig. ), and double calcaneum ossification with club feet (Fig. ). Radiographs at 3 months (Fig. and i) and 1 year (Fig. ) suggested delayed carpal ossification. Radiographs at 3 months and 1 year showed thoracolumbar scoliosis (Fig. ) and small capital femoral epiphysis (Fig. ). Thyroid profile was done in view of delayed bone age and was found to be normal. His complete blood counts, serum calcium, serum phosphorous, alkaline phosphatase, and complete urine analysis were normal.
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. ).