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Article
Open AccessA Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
Osteogenesis imperfecta (OI) and other decreased bone density disorders comprise a heterogeneous group of heritable diseases with skeletal fragility. Recently, it was discovered that mutations in SGMS2, encoding ...
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Article
Open AccessNovel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 ...
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Article
Efficacy and toxicity of (chemo)radiotherapy for primary subglottic cancer
Primary subglottic cancer is a rare malignancy. We investigated the efficacy and toxicity of radiotherapy for subglottic cancer.
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Article
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype–genotype correlation
We report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at birth, including bilateral cataracts, bilateral glaucoma, bilateral severe hearing impairm...
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Article
Feminizing Wolbachia in an insect, Ostrinia furnacalis (Lepidoptera: Crambidae)
Wolbachia, which forms a group of maternally inherited bacteria in arthropods, often cause reproduction alterations in their hosts, such as cytoplasmic incompatibility, parthenogenesis, male-killing, hybrid break...
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Article
Low-intensity fetal lungs on MRI may suggest the diagnosis of pulmonary hypoplasia
Pulmonary hypoplasia is a common cause of neonatal death. Despite the recent advances in prenatal diagnosis with US, the diagnosis of pulmonary hypoplasia is difficult. The recent application of fast MR imagi...
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Article
Spondylar dysplasia in type X collagenopathy
Background. The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a dis...
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Article
Patterson-Lowry rhizomelic dysplasia: a potentially lethal bone dysplasia?
We report a Japanese boy, who is considered as having Patterson-Lowry rhizomelic dysplasia, a rare, as yet undefined, skeletal dysplasia. The diagnosis was warranted by the constellation of skeletal abnormali...
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Article
Metastatic bone tumor mimicking spontaneous osteonecrosis of the medial condyle of the femur: misleading appearance on MR imaging
We report a case of a metastatic bone tumor that mimicked spontaneous osteonecrosis of the medial condyle of the femur on magnetic resonance imaging.
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Article
MR findings of bowlegs in toddlers
Background. Toddlers with severe physiologic tibial bowing are considered to be at risk for the development of Blount's disease. Objective. To correlate MR findings of the knee with the clinical outcome in toddl...
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Article
Hyperostosis generalisata with striations of the bones: report of a female case and a review of the literature
We report on a 70-year-old woman with generalized skeletal alterations, characterized by marked diaphyseal expansion of the long bones and coarse striations of the trabeculae of the tubular bones, ribs, pelvis...
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Article
Fetal polycystic kidney disease in oro-facio-digital syndrome type I
We report a girl with oro-facio-digital syndrome type I (OFD I) associated with polycystic kidney disease (PKD), which was identified on fetal US and fetal MRI. After birth, the diagnosis of this X-linked dom...
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Article
A mild variant of Desbuquois dysplasia
On the basis of three newly observed cases (a pair of siblings and a sporadic case) and one previously reported case, we describe the clinical and radiological phenotype of a skeletal dysplasia resembling Des...
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Article
Ischio-spinal dysostosis: a previously unrecognised combination of malformations
Background. Ischial hypoplasia is an extremely rare malformation, both as an isolated anomaly and as a syndromic constituent. Objective. To elucidate the clinical and radiological characteristics in five patient...
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Article
Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?
A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft pal...
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Article
Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs
We report a girl with a unique combination of malformations, including recurrent fractures, mental retardation with extrapyramidal tract signs and minor facial abnormalities. Generalised osteoporosis with ove...
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Article
Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: A new syndrome?
A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnorma...
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Article
Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type
Objective. To clarify the phenotype in a bone dysplasia termed “spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes” by Stanescu et al.
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Article
A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: A new syndrome?
The case of a Japanese girl with a unique combination of congenital malformations is reported. The malformations include craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized s...
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Article
A distinct subtype of “metatropic dysplasia variant” characterised by advanced carpal skeletal age and subluxation of the radial heads
Background.“Metatropic dysplasia variants” are a group of bone dysplasias whose skeletal abnormalities are similar to, but milder than, those of classical metatropic dysplasia. The genetic and phenotypic heterog...
