Cases reported "Abnormalities, Multiple"

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1/114. Acromelic frontonasal dysostosis.

    We report on 3 male and 2 female infants with acromelic frontonasal dysostosis. All 5 had a frontonasal malformation of the face and nasal clefting associated with striking symmetrical preaxial polysyndactyly of the feet and variable tibial hypoplasia. In contrast, the upper limbs were normal. This rare variant of frontonasal dysplasia may represent a distinct autosomal-recessive disorder. We suggest that the molecular basis of this condition may be a perturbation of the Sonic Hedgehog (SHH) signalling pathway, which plays an important part in the development of the midline central nervous system/craniofacial region and the limbs.
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ranking = 1
keywords = tibia
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2/114. Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.

    We report an apparently previously undescribed form of lethal osteosclerotic skeletal dysplasia in a 30-week male fetus with micromelic shortness of the limbs. Radiographic findings at necropsy included increased density in all bones, most marked in the skull, mandible, and pubis. The ribs were very short, abnormally modeled, and wide anteriorly. The vertebrae were posteriorly hypoplastic and wedged, particularly in the cervical and lumbar regions. The femora and tibiae were short with wide distal metaphyses, undermodeled diaphyses, and coxa vara. The humeri, radii, and ulnae were also short and undermodeled with proximal and distal flare. Chondro-osseous morphology showed short chondrocyte columns, extension of hypertrophic cells into the metaphysis, and overgrowth of perichondral bone. In the resting cartilage there were large chondrocytes containing a homogeneous material staining pink with von Kossa trichrome, gray with toluidine blue, and black with silver methenamine. The cortical bone was lacking and the trabecular bone was hypercellular, thick, and coarse. Ultrastructurally, the resting zone chondrocytes were large and round with condensed chromatin and dilated loops of rough endoplasmic reticulum. The radiographic and histopathologic findings in this case are unique and differ from those seen in other reported lethal osteosclerotic skeletal dysplasias.
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ranking = 1
keywords = tibia
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3/114. Tibial agenesis, femoral duplication, and caudal midline anomalies.

    Tibial agenesis with femoral duplication (Gollop-Wolfgang complex) and cloacal exstrophy are each rare malformations. Thus, their concurrence in an individual is an extremely rare event. We report on a patient born with distal duplication of the right femur, agenesis of the right tibia and hallux, cloacal exstrophy, and sacral defects. review of the small group of cases reported with femoral duplication and tibial agenesis in association with caudal midline defects demonstrated a pattern of anomalies that while varying in presentation and severity was quite specific. We postulate that this disorder is related to misexpression of one or more distal HOX genes, potentially HOX10 or HOX11, leading to abnormal induction and proliferation of caudal mesenchyme.
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ranking = 2
keywords = tibia
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4/114. Confirmation of arterial deficiencies in a limb with necrosis following clubfoot surgery.

    This study describes postoperative necrosis of the hallux and first ray in a child with clubfoot. Arteriography performed on this child's lower limbs demonstrated, in the operated leg, hypoplasia of both the anterior and posterior tibial arteries and failure of the dorsalis pedis artery to traverse the tarsus and complete the deep plantar arch. Previously, congenital vascular deficiency was suggested to predispose such operated limbs to necrosis. These findings confirm the association between vascular deficiency and necrosis. In this present study, the metabolic demands of wound healing were sufficient in a limb with vascular deficiency to cause localized distal hypoperfusion leading to cyanosis and necrosis of the hallux and medial foot.
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ranking = 1
keywords = tibia
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5/114. Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.

    Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of malformations has not previously been described.
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ranking = 5
keywords = tibia
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6/114. A sporadic case of tetramelic mirror-image polydactyly and unilateral tibial hypoplasia without associated anomalies.

    We report a sporadic case of tetramelic mirror-image polydactyly in combination with unilateral tibial aplasia. No chromosomal or other associated abnormalities were found. The appearance and function of the upper and lower limbs were improved by surgery.
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ranking = 5
keywords = tibia
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7/114. Tibial and fibular developmental fields defects.

    Malformations of the lower limbs are rare and heterogeneous anomalies. To explain the diversity and complexity of these abnormalities, authors introduced the concept of tibial and fibular developmental fields. Defects in these fields are responsible for different malformations, which have been described, to our knowledge, in only one report in the radiology literature. We present a case of a newborn with femoral bifurcation, absent fibulae and talar bones, ankle and foot malformations, and associated atrial septal defect. Our case is an example of defects in both fibular and tibial developmental fields.
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ranking = 2
keywords = tibia
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8/114. Congenital transverse deficiency of the tibia and fibula: a report of two cases.

    We report two similar, but unrelated, patients with congenital bilateral partial deficiencies of the tibia and fibula associated with intact feet. In both patients, the tibia and fibula were absent on initial radiographs, while the femur and the tarsal bones were well developed and there was bilateral teratologic dislocation of the hips. Ultrasound and magnetic resonance imaging (MRI) studies suggested the presence of cartilaginous remnants of the tibia and fibula. There were multidirectional instabilities in the knees and ankles. The clinical and radiological features of these cases are distinct from those of congenital longitudinal deficiency of the tibia, in which the fibula is always preserved, and from longitudinal deficiency of the fibula, in which the tibia is present and the foot is usually involved. We suggest that the bilateral partial deficiencies of the tibia and fibula associated with the intact foot and teratologic dislocation of the hips is a single-entity disorder, possibly categorized as an intercalary transverse deficiency of the lower limb.
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ranking = 10
keywords = tibia
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9/114. Tibial aplasia--VACTERL association, a new syndrome?

    We report on a male infant, born to nonconsanguineous parents, with a vertebral anomaly, cardiac defect, tracheo-oesophageal fistula and hypospadias (VACTERL association) together with bilateral tibial aplasia. This pattern of abnormalities appears to represent a unique syndrome.
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ranking = 1
keywords = tibia
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10/114. prenatal diagnosis of campomelic dysplasia.

    A pregnant woman of 24 weeks' gestation underwent ultrasound examination for fetal anomaly screening. The ultrasound findings revealed a single fetus with biparietal diameter of 61 mm, which was consistent with menstrual dates. The thoracic cage was small compared to the abdomen with hypoplastic scapulae and normally ossified unfractured ribs. All bony structures demonstrated normal echogenicity. The upper long bones were normal length and shape. Both femurs and tibiae were obviously bowed anteriorly, and slightly shortened. Bilateral talipes equinovarus were clearly demonstrated. A prenatal diagnosis of campomelic dysplasia was made and was confirmed by postnatal radiography and autopsy. The sonographic diagnosis in this case was based on the findings of small thorax, hypoplastic scapulae and bowed tibiae and femurs.
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ranking = 2
keywords = tibia
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