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1/282. Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia.

    We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity.
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ranking = 1
keywords = dysplasia
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2/282. chondrodysplasia punctata stemming from maternal lupus erythematosus.

    The finding of stippled epiphyses on a neonatal radiograph generates a wide differential diagnosis, including genetic and teratogenic causes. We report the case of a male infant with stippled epiphyses evident on neonatal radiographs in whom a typical rash of lupus erythematosus developed. The skin abnormalities in the infant resulted in a diagnosis of systemic lupus erythematosus in his mother. Over a 3-year follow-up period, the child has demonstrated strikingly short stature, midface hypoplasia, anomalous digital development, slow resolution of the stippled epiphyses, and near normal cognitive development. The differential diagnosis of chondrodysplasia punctata and the literature supporting maternal lupus as one cause are reviewed.
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ranking = 1.25
keywords = dysplasia
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3/282. New syndromic entity of situs inversus totalis.

    A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype.
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ranking = 0.0023957700142591
keywords = defect
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4/282. Congenital neonatal myotonic dystrophy with persistent pulmonary hypertension and coma: a difficult diagnosis.

    The fulminant forms of congenital myotonic dystrophy, which rapidly lead to death, are difficult to diagnose. The case described illustrates the roles of persistent pulmonary hypertension in such a fatal form.
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ranking = 0.022548609589639
keywords = congenita
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5/282. 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 = 0.022548609589639
keywords = congenita
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6/282. Symptomatic talonavicular coalition.

    Talonavicular coalition is reported as an asymptomatic congenital anomaly of the foot that is noticed incidentally on radiographs of the foot, and is often associated with symphalangism, clinodactyly, ball-and-socket ankle joint, a great toe that is shorter than the second toe, and an autosomal dominant inheritance pattern. We describe here three patients with five involved feet. All three patients had chronic foot pain not secondary to trauma, and all five feet required treatment to alleviate the pain.
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ranking = 0.022548609589639
keywords = congenita
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7/282. Congenital absence of the lateral metatarso-phalangeal sesamoid bone of the human hallux: a case report.

    A case of congenital absence of the lateral metatarsophalangeal sesamoid bone of the hallux is reported, in a 47-year-old woman. The lateral sesamoid bone was absent on the right hallux, and extremely reduced on the left hallux. The normal intersesamoidean crest and both sesamoidean grooves of the metatarsal head were absent. physical examination was normal, and no functional disturbance resulted from this variant. Only two previous cases have been found in the literature. It must be distinguished from a total resorption due to an infectious process, or from an absence due to surgical excision. This absence can be related to the general tendency of disappearance of the sesamoid bones within hominoid primates.
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ranking = 0.022548609589639
keywords = congenita
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8/282. An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies.

    We report details of a neonate with cranial bone dysplasia, broad nasal bridge, microphthalmia, optic and olfactory nerve anomalies, pulmonary segmentation defects, polydactyly, abnormally positioned and shaped thumbs, absent mesentery to the gut and streak gonads. review of the literature and relevant databases does not identify a likely diagnosis.
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ranking = 0.25239577001426
keywords = dysplasia, defect
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9/282. Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.

    We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, telecanthus, cleft palate, preauricular skin tags/pit, camptodactyly, and foot anomalies. To our knowledge, this is a previously undescribed formal genesis syndrome. Clinical and genetic aspects are discussed.
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ranking = 0.090194438358556
keywords = congenita
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10/282. The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.

    We report on a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome. The presence of constriction rings makes the limb anomalies in this case similar to those seen in the amniotic band disruption sequence. Vascular disruption--with or without secondary amniotic rupture--may be responsible for the observed anomalies. Therefore we believe that the present observation adds further evidence for the hypothesis that the Adams-Oliver syndrome is a vascular disruption sequence.
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ranking = 0.024944379603898
keywords = congenita, defect
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