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 II:2 was the 65-year-old mother of the twins. She had a history of bilateral congenital cataract extractions. Her fundus examination demonstrated bilateral vitreous syneresis with vitreous membranes. Patient II:3 presented with a cleft palate at an early age. Patients IV:3 and IV:4 presented with a history of retinal detachments but no systemic manifestations. We were not able to collect clinical data from the deceased individuals I:1 and I:2, although historical accounts from II:1 revealed her mother (I:2) had a history of retinal problems.