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 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.