Cases reported "Dwarfism"

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1/19. Campomelic dwarfism.

    The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a cutaneous dimple over the anterior skin. There is delayed calcification of the epiphyses and delayed mineralization of the spine and pelvis. The cartilages of the tracheobronchial tree are hypoplastic, contributing to death from respiratory problems. Other associated abnormalities are unusual appearing facies, cleft palate, absent olfactory nerves and talipes equinovarus. Less commonly seen are cardiac, renal and brain anomalies.
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keywords = tibia
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2/19. 3-M syndrome: a prenatal ultrasonographic diagnosis.

    The ultrasonographic imaging of a fetus affected by 3-M syndrome is described. This is a primordial dwarfism with low birthweight, short stature, facial dysmorphism and normal mental development. The biparietal diameter and head circumference were in accordance with the gestational age at 18 weeks. The femur and tibia lengths were on the fifth centile and the radius, ulna and humerus lengths were below the fifth centile. A second scan at 22 weeks showed slowing of growth of all long bones, with the femur, tibia, fibula, humerus, radius and ulna lengths further below the fifth centile. The pregnancy was terminated and postmortem examination confirmed the prenatal diagnosis. The differential diagnosis of skeletal dysplasias characterized by a slow growth of long bones is discussed and the conclusion reached that the detection of shortened long bones (below the fifth centile) is the only ultrasonographic finding of 3-M syndrome.
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keywords = tibia
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3/19. Micromelic dwarfism--humerus, femur and tibia type.

    We report a baby with severe micromelic dwarfism characterized by severe shortening of the humeri, femora and tibiae with hypoplastic radii, ulnae and fibulae which are of normal shape. We suggest that this case is similar to the case reported by Baxova et al [(1993), Paediatr Radiol 23:446-449] confirming the identity of this new bone dysplasia.
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keywords = tibia
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4/19. A case of acampomelic campomelic dysplasia.

    Acampomelic campomelic dysplasia is a rare variant of campomelic dysplasia syndrome affecting bone and connecting tissue. This syndrome is implicated by the absence of bowed limbs. Affected children have a characteristically smooth facial profile and are born with respiratory distress. A 15 day old Turkish boy presented with a small flat face, dolicocephalic head, proptotic eyes, short neck, low-set ears and a small thoracic cage. Limbs were mesomelically short and bilateral talipes equinovarus was present. The radiological findings indicated hypoplastic scapulae, narrow ribs, small thorax, thin claviculaes, and small iliac wings. Angulation of the femur, tibia and humerus was not observed. Our case, suited to acampomelic campomelic dysplasia, is discussed with differential diagnosis and compared with previously reported cases of the syndrome.
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keywords = tibia
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5/19. Orthopaedic manifestations of campomelic dysplasia.

    campomelic dysplasia is a rare form of congenital dwarfism associated with potentially fatal respiratory insufficiency. There are several types of campomelic dysplasia; however, it is characterized by the presence of anteriorly bowed tibias with cutaneous dimpling, anterolaterally bowed femurs, thoracic kyphoscoliosis, hypoplastic scapulas, and absence or delayed ossification of thoracic pedicles. With improving treatment of respiratory insufficiency, the survival rate of affected infants has increased, thereby necessitating treatment of the musculoskeletal malformations to prevent additional morbidity. In an attempt to increase awareness of the presentation of infants with campomelic dysplasia and to emphasize the difficulties of treating associated developmental dislocation of the hip early, the current authors report the case of a 2-year-old girl with campomelic dysplasia who was treated for dislocation of the right hip. The postoperative course of this child was complicated seriously by several apneic episodes secondary to tracheobronchial malacia for which she required admission to the pediatric intensive care unit.
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keywords = tibia
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6/19. mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome.

    Mulibrey (muscle, liver, brain, eye) nanism is probably an autosomal recessive condition characterized by progressive growth failure of prenatal onset, triangular face with hydrocephaloid skull, general thinness and muscular hypotonicity, peculiar voice, venous congestion caused by pericardial constriction, and pigment dispersion and yellowish dots in ocular fundi. Two thirds of the patients had cutaneous nevi flammei and one third cystic fibrous dysplasia of the tibia. Probably a substantial portion of the affected are lost by early abortion and others by infantile death. The physical capacity and life expectancy seem to vary depending on the degree of the cardiac affection.
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keywords = tibia
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7/19. Camptomelic dwarfism. Report of a case and review of the salient features.

    A typical case of camptomelic dwarfism exhibits the characteristic clinical features of: rhizomelic dwarfism, anterior bowing of the tibia with cutaneous dimpling, talipes equinovarus, peculiar facies with micrognathia and characteristically death in the first 6 weeks of life.
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keywords = tibia
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8/19. campomelic dysplasia without campomelia.

    We present a male infant with campomelic dysplasia syndrome (McKusick 21197) in whom no bowing of the tibiae or femora was seen, but widely set nipples and long upper segment of the arm were observed. In accordance with two previous case reports, the present findings suggest that a campomelic dysplasia variant without campomelia may exist.
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keywords = tibia
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9/19. Metaphyseal acroscyphodysplasia.

    Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested. The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiological aspect of the knees is very specific: the lower femoral and upper tibial epiphyses embed themselves in their metaphyses, which are severely cup-shaped. Premature central epiphyso-metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles may occur. The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features. Slight deformations of the long bones occur in the upper limb. Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement. Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely.
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keywords = tibia
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10/19. Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?

    Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radioulnar synostosis, and dysplasia of the elbow and knee joints. We describe a patient with mesomelic dysplasia with findings suggestive of the Nievergelt syndrome and with absence of fibulae and hexadactyly.
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keywords = tibia
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