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 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.