1/102. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the united states.This is a report of two North American patients with spondyloepimetaphyseal dysplasia with joint laxity, an uncommon autosomal recessive skeletal dysplasia rarely reported outside of south africa. patients with SEMDJL have vertebral abnormalities and ligamentous laxity that results in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubbed feet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. diagnosis in infancy may be difficult because many of the typical findings are not apparent early and only evolve over time. We review the physical and radiographic findings in two unrelated patients with this disorder in order to increase the awareness of this disorder, particularly for clinicians outside of south africa.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
2/102. Involvement of the humerus in two generations with spondyloepiphyseal dysplasia.Children with spondyloepiphyseal dysplasia present with a disproportionate short stature, platyspondyly, scoliosis, coxa vara, and clubfeet. Extraskeletal manifestations such as retinal detachment and deafness have been reported. The authors report two patients, a mother and her daughter, aged 35 and 6 years, with findings of pseudarthrosislike lesions in the middiaphysis of both humeri. The mother had minimal symptoms that resolved spontaneously, and the child had no symptoms related to these lesions. The radiographs of the mother show complete remodeling of the lesion. The pseudarthrosislike lesion of the humerus may be one of the manifestations of spondyloepiphyseal dysplasia congentia. In time, the bone remodels completely. Because this is a relatively new radiographic finding, the authors suggest performing a radiograph of the humeri in patients with spondyloepiphyseal dysplasia congenita at least once during childhood.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
3/102. Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant. A history of digital anomalies in the father and grandfather lead to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS, MIM #175700). Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder. Molecular analysis confirmed the presence of two dominant mutations in the propositus: a GLI3 mutation (E543X), which was present also in the father and grandfather, and a de novo COL2A1 mutation leading to a G973R substitution. Thus, this boy combined the syndactyly-macrocephaly phenotype of Greig cephalosyndactyly syndrome with a severe form of spondyloepiphyseal dysplasia caused by the structural defect in type II collagen. The diagnostic difficulties posed by the combination of two genetic disorders and the contribution of molecular diagnostics are well illustrated by this case.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
4/102. Syndromal (and nonsyndromal) forms of male pseudohermaphroditism.The term sex determination refers to the genetic events that bring about male or female gonadal development; sex differentiation to all subsequent morphogenetic and physiological events that establish functional sexuality, sexual dimorphism and the secondary sexual characteristics. Virtually all of the steps of sex differentiation are under genetic control; consequently each one of them can fail as result of mutation of the corresponding genes. We shall be concerned with those genes and their mutations that cause pseudohermaphroditism in males and more rarely in females (with the exception of congenital adrenal hyperplasia). Special emphasis will be placed on Swyer, Denys-Drash, RSH, GBBB, campomelic and ATR-X syndromes, whose genes were recently identified.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
5/102. Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss.Spondyloepiphyseal dysplasia is a disorder characterized by abnormalities of growth. Previous studies of this disorder have identified a significant incidence of associated hearing loss. hearing loss has been reported to occur in 25 to 30% of affected patients. To date, all reports of associated hearing loss have indicated the presence of a sensorineural component. In this article, we report the case of a child who was diagnosed with spondyloepiphyseal dysplasia congenita and who was found to have a significant conductive hearing loss with a Carhart's notch, indicating the likely presence of stapes footplate fixation. We also review the diagnosis of this condition and the literature associated with hearing loss as it occurs with this disorder.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
6/102. Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantu syndrome): a new case with unusual radiological findings.We report on a new case of a syndrome first described by Cantu et al. [1982: Hum Genet 60:36-41] comprising congenital hypertrichosis, "coarse" facial appearance, and mild osteochondrodysplasia. Our case has some unusual radiological findings, namely proximal and distal megaepiphyses of long bones and advanced bone age.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
7/102. Multiple occurrence of osteochondromas in dysplasia epiphysealis hemimelica.Dysplasia epiphysealis hemimelica was defined by Trevor (1950) as a rare congenital growth disorder of the tarsus and of the epiphysis of the long bone. In this report, a rare case of dysplasia epiphysealis hemimelica associated with multiple extraskeletal osteochondromas is presented. Although different modes of expression of the same pathologic process have been suggested for dysplasia epiphysealis hemimelica and osteochondroma, the biological feature of cartilaginous overgrowth in the skeletal system still seems unclear.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
8/102. Spondyloepiphyseal dysplasia congenita: report of one case.Spondyloepiphyseal dysplasia (SED) congenita is a rare disorder with autosomal dominant inheritance which demonstrates short stature since birth and displays progressive involvement of the spine and the epiphyses of long bones. We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies. Neurological examination is normal. No specific biochemical change or intellectual impairment can be discerned.- - - - - - - - - - ranking = 6keywords = congenita (Clic here for more details about this article) |
9/102. Short limbed skeletal dysplasia associated with combined immunodeficiency and congenital subglottic stenosis: a new constellation of features.A newborn male is described with an association of short limbed dwarfism with hip dislocation, combined immunodeficiency characterized by absent B cells and CD4 lymphopaenia and congenital subglottic stenosis. This constellation of abnormalities is distinct from other described skeletal dysplasias associated with immunodeficiency such as ADA deficiency and cartilage hair hypoplasia.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
10/102. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling Kniest disease, "kyphomelic dysplasia," and "Burton skeletal dysplasia" revealed the diagnosis of Schwartz-Jampel syndrome (SJS, myotonic chondrodysplasia) in all of them. SJS may be suspected in neonates with Kniest-like chondrodysplasia, congenital bowing of shortened femora and tibiae, and facial manifestations consisting of a small mouth, micrognathia, and possibly pursed lips. The disorder must be differentiated from the Stuve-Wiedemann syndrome, a genetically distinct myotonic chondrodysplasia with similar clinical but different skeletal changes and an unfavorable early prognosis. The demise of "kyphomelic dysplasia" as a nosological entity reemphasizes the symptomatic nature of congenital bowing of the long bones.- - - - - - - - - - ranking = 2keywords = congenita (Clic here for more details about this article) |
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