Kniest syndrome.
نویسندگان
چکیده
A 12-year-old male child presented with bilateral visual loss and short stature. He had dysmorphic faces, barrel shaped chest and short limbs with enlarged peripheral joints. In addition he had bilateral retinal detachment with secondary cataract formation. Skeletal survey revealed irregular platyspondyly, hypoplastic femoral head and enlarged epiphysis of long bones with cloud like calcification. Radiological features were diagnostic of Kniest syndrome. The child underwent pars plana lensectomy and a vitreo-retinal surgery with silicon oil infusion in the right eye for retinal detachment.
منابع مشابه
Cataract in Kniest dysplasia: clinicopathologic correlation.
Kniest dysplasia is a variant of the spondyloepiphyseal dysplasias caused by an abnormal synthesis of collagen type II. In 1952, Kniest reported the first specific description of a variety of chondrodystrophy that he termed an atypical chondrodystrophy, which came to be known as Kniest dysplasia. A patient with Kniest dysplasia usually is seen with characteristic round facies, midfacial flatnes...
متن کاملA Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele
induce type II achondrogenesis-hydrochondrogenesis, spondyloepiphyseal dysplasia congenita, and Stickler syndrome, along with Kniest syndrome . 6-8) The clinical features of Kniest syndrome include a disproportionately short stature with a short, barrel-shaped chest, kyphoscoliosis, enlargement of joints with limited range of motion, a flat face with prominent eyes, low nasal bridge, myopia tha...
متن کاملA family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?
We present an Arab family with some features of Kniest disease. The proband was a six year old boy with rhizomelic short limbed dwarfism, 'dish-like' facies, cleft palate, deafness, and camptodactyly. Most radiological changes were compatible with Kniest disease. Two younger sibs, similarly affected, had died at a few months old, and the pedigree shows strong evidence of autosomal recessive inh...
متن کاملKniest Dysplasia: New Radiographic Features in the Skeleton
OBJECTIVE To describe skeletal findings in patients with Kniest dysplasia, focusing on osseous abnormalities that have not been characteristically associated with this disorder. MATERIALS AND METHODS This was a retrospective study. The radiographs of four patients with known Kniest Dysplasia were evaluated by three musculoskeletal radiologists. RESULTS Bilateral radial head dislocations and...
متن کاملKniest dysplasia: patient's growth progress and development--evolution of abnormalities, 30 year follow up.
A case of a male patient with Kniest dysplasia is reported. The patient's growth and the development and evolution of the patient's abnormalities were tracked for a 30 year period, starting at the patient's birth. The clinical and radiographic features during this period, along with the differential diagnosis of Kniest dysplasia, are discussed. Femoral capital epiphyses and the presence of a ca...
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عنوان ژورنال:
- Indian pediatrics
دوره 44 12 شماره
صفحات -
تاریخ انتشار 2007