Cases reported "Hand Deformities"

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1/2. osteogenesis imperfecta: a case with hand deformities.

    In a 51-year-old woman with a history of fractures and dislocations after low intensity trauma in childhood, intensive blue sclera, short stature, and hearing loss, the diagnosis of osteogenesis imperfecta (OI) was suspected. She was referred to our clinic with hand deformities and left knee pain and stiffness. She had difficulty in walking and reported a history of immobilization for 6 months because of knee pain. She had bilateral flexion contracture of the elbows which occurred following dislocations of the elbows in childhood. She had Z deformity of the first phalanges, reducible swan-neck deformity of the third finger of the left and the second finger of the right hand, flexion contracture of the proximal interphalangeal joint of the fifth finger of the left hand, and syndactyly of the third and fourth fingers of the right hand. Flexion contractures of both knees were observed. Pes planus and short toes were the deformities of the feet. Acute phase reactants of the patient were normal. She had no history of arthritis or morning stiffness. Bone mineral density evaluated by dual-energy X-ray absorptiometry (DEXA) showed severe osteoporosis of the femur and lumbar vertebrae. She had radiographic evidence of healed fractures of the left fibula, the third metacarpal, and the fourth and fifth middle phalanges of the right hand. OI, affecting the type I collagen tissue of the sclera, skin, ligaments, and skeleton, presenting with ligament laxity resulting in subluxations and hand deformities may be misdiagnosed as hand deformities of rheumatoid arthritis.
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2/2. Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia.

    We describe a 5-4/12-year-old girl with the unique combination of bilateral radial ray hypoplasia and multiple epiphyseal dysplasia (MED). Radial ray hypoplasia was diagnosed at birth. MED was documented at age 4-3/12 years when she presented with leg pain and short stature and was found to have femoral anteversion and tibial torsion giving rise to severe genu valgum deformity and intoeing. She has no facial anomalies and is developmentally normal. family history is unremarkable and chromosomal analysis was normal. Investigation of mineral metabolism showed idiopathic hypercalciuria. Surgical lengthening of her severely hypoplastic left radius at age 19 months was successful. Bilateral femoral and tibial osteotomies at age 5-4/12 years corrected her lower limb deformities. This combination of two distinctive but rare skeletal abnormalities may represent a new syndrome.
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