Patient 1 is a 10-year-old boy. He was born to non-consanguineous parents at term by cesarean section. Birth weight was 3.25 kg (normal). He cried immediately after birth. He was referred for evaluation with bilateral club feet and cleft palate noted at birth and hyper-extensibility of both knee joints noted since 4 months of age. He was operated for cleft palate at 15 months of age. He has undergone multiple corrective orthopedic surgeries for clubfeet. He had recurrent lower respiratory tract infections until 2 years of age and he was found to have significant gastroesophageal reflux and was medically treated. After 2 years of age, he had no history suggestive of breathing difficulty or noisy breathing. He achieved head holding at 3 months, sitting at 8 months, walked with support at 15 months and walked without support at 2 years. He started smiling at 4 months, babbling at 5 months, spoke monosyllables at 1 year and bisyllables at 2 years.\nAt 10 years, his height was 132 cm, OFC 52.5 cm and weight 29.3 kg (all are normal for age). He had facial dysmorphism with depressed nasal bridge, mid face hypoplasia, telecanthus and long philtrum (Fig. ). Bilateral subluxation of elbow joints and knees and bilateral club feet were present (Fig. ). He had bilateral 5th finger clinodactyly, spatulate thumbs, broad fingertips, abnormal palmar creases and joint laxity (Fig. ). Hip and wrist joints were normal. Skin, hair, nails and teeth were normal. There was no evidence of hearing defect or compressive myelopathy. Other examinations were unremarkable, such as echocardiography and ophthalmology. At present, he is class four student and is average in studies.\nSkull radiography revealed normal cervical spine (Fig. ). Radiographs were suggestive of supernumerary carpal bones, short metacarpals (Fig. ), normal thoracolumbar spine (Fig. ), bilateral elbow joints dislocation (Fig. ) and cervical-dorsal scoliosis (Fig. ). Radiograph of pelvis with both hips was unremarkable (Fig. ). His complete blood count, serum calcium, serum phosphorous, alkaline phosphatase levels 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. ).