1/626. Chondrodiatasis in a patient with spondyloepimetaphyseal dysplasia using the ilizarov technique: successful correction of an angular deformity with ensuing ossification of a large metaphyseal lesion. A case report.Distraction through the physis (chondrodiatasis) is a controversial technique with unpredictable results. However, it has been used in the past for the lengthening and correction of angular deformities of long bones. We report the case of an 11-year-old patient with spondyloepimetaphyseal dysplasia (SEMD) who presented with a severe recurvatum deformity of the left proximal tibia secondary to collapse of the tibial plateau into a large metaphyseal cystic lesion. Using the chondrodiatasis technique with a percutaneously applied Ilizarov circular frame, we were able to correct this deformity. Surprisingly, healing and ossification of the metaphyseal lesion was simultaneously observed at the end of the treatment, a finding which, to the best of our knowledge, has not been previously reported.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/626. Multiple disc herniations in spondyloepiphyseal dysplasia tarda. A case report.Spondyloepiphyseal dysplasia (SED) tarda is a group of inherited dysplasias in which the spine and the epiphyses of long bones are affected from late childhood. A 19-year-old male was diagnosed as SED tarda. He had a thoracic and then lumbar disc herniations which were separated by a 4-year interval. Surgical excision was performed for each disc herniation. This is the first case report of multiple disc herniations in SED.- - - - - - - - - - ranking = 1.2keywords = dysplasia (Clic here for more details about this article) |
3/626. Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.We report on a female fetus of 24 weeks whose clinical and radiological findings were compatible with boomerang dysplasia (BD). However, histopathology was unusual with a lateral fan shaped diaphyseal ossification. This has never been described either in typical atelosteogenesis I (AT-I) or in BD. The purpose of this report is to find out if this condition is a separate lethal bone dysplasia or another histological feature of the nosological group of AT-I and BD.- - - - - - - - - - ranking = 1.2keywords = dysplasia (Clic here for more details about this article) |
4/626. A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia.We describe a female infant with a combination of very short stature, severe eczema and igg deficiency causing recurrent infections in infancy. The radiological features of this condition are presented in the neonatal period, at the age of 5 months and at 2 years and 6 months. We propose that this condition is a previously undescribed type of spondyloepimetaphyseal dysplasia.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
5/626. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and hypochondroplasia. The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene. The fetus was found to carry both mutations diagnosed prenatally by amniocentesis at 17.6 weeks of gestation, following maternal serum screening which showed an increased risk for down syndrome (1:337). Detailed fetal ultrasound studies showed a large head, short limbs, and a small chest at 22 weeks of gestation. The changes were more severe than those of either achondroplasia or hypochondroplasia. The patient was born by cesarean section at 38 weeks of gestation and had rhizomelic shortness of the upper and lower limbs with excess skin folds, large head, enlarged fontanelles, frontal bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest. Skeletal radiographs showed shortness of the long bones and flare of metaphyses. He had respiratory difficulties and was treated with nasal prongs. seizures developed on day 2 of life and recurred on day 9 and responded to treatment with phenobarbital. brain computed tomographic scan showed possible grey matter heterotopia, partial agenesis of the corpus callosum, and cortical dysplasia. To our knowledge, there are only two previously published cases of compound heterozygous achondroplasia-hypochondroplasia patients. The diagnosis was confirmed by dna mutation analysis of the FGFR3 gene in both cases.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
6/626. Dysplasia epiphysealis hemimelica of the scaphoid bone.We report a rare case of dysplasia epiphysealis hemimelica (DEH) in the wrist of a 7-year-old boy. Clinical, radiological and histopathological manifestations are discussed. The correct diagnosis of DEH, however, was made by the confrontation of the radiological and pathological data. The radiologist should inform the pathologist correctly about the imaging findings in order to avoid misdiagnosis of the lesion as osteochondroma.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
7/626. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina et al., 1999: Am. J. Hum. Genet. 64:722-731]. Here we present a more detailed clinical account of the SADDAN phenotype. The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone growth that approach and overlap those observed in thanatophoric dysplasia, type I. However, this mutation is most often compatible with survival into adulthood. Other unusual bone deformities, such as femoral bowing with reverse (i.e., posterior apex) tibial and fibular bowing and "ram's horn" bowing of the clavicle, are also seen in some patients. In addition to skeletal dysplasia, progressive acanthosis nigricans, and central nervous system structural anomalies, seizures and severe developmental delays are observed in surviving SADDAN patients. Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.- - - - - - - - - - ranking = 1.4keywords = dysplasia (Clic here for more details about this article) |
8/626. Metaphyseal anadysplasia in two sisters.Metaphyseal anadysplasia is a rare form of metaphyseal chondrodysplasia with well-defined radiological abnormalities. The prognosis is good as the natural course results in regression of the lesions with normal stature in adulthood. The few reported cases, exclusively in male children, indicated possible X-linked recessive transmission. The documentation of two affected sisters suggests genetic heterogeneity or another mode of inheritance.- - - - - - - - - - ranking = 1.2keywords = dysplasia (Clic here for more details about this article) |
9/626. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome.Cantu syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. She also had unusual, deep plantar creases, not reported previously in Cantu syndrome. Autosomal recessive inheritance has been suggested previously on the basis of sib recurrence in one family and consanguinity in another. We have performed a segregation analysis based on all reported families to date; the data indicate autosomal recessive inheritance is unlikely. A new dominant mutation or microdeletion syndrome are more likely possibilities, sib recurrence possibly representing gonadal mosaicism.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
10/626. Sporadic case of trichorhinophalangeal syndrome type III in a European patient.Trichorhinophalangeal syndrome type III (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984 in Japanese patients, one sporadic case [Sugio and Kajii, 1984: Am. J. Med. Genet. 19:741-753,1984] and two families [Niikawa and Kamei, 1986: Am. J. Med. Genet. 24:759-760; Nagai et al., 1994: Am. J. Med. Genet. 49:278-280], and more recently in a Turkish family [Itin et al., 1996: dermatology 193:349-352]. We report an additional observation in a patient of European descent, who presented with short stature, cone-shaped epiphyses, sparse hair, a pear-shaped nose, normal intelligence and severe brachydactyly. Neither parent had manifestations of TRP and there was no other reported case in the family, indicating a presumably fresh mutation. Our observation refines the clinical spectrum of TRP III in another ethnic background and may be of help in identifying the gene or genes for TRP syndromes.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
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