20 Result(s)
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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
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
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
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
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
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...
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Article
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents
We report a hitherto unknown, lethal osteochondrodysplasia in two Japanese siblings born to consanguineous parents. The skeletal abnormalities are characterised by mesomelic brachymelia with bowed forearms, a...
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Article
Radiographic findings in Shprintzen-Goldberg syndrome
We report the case of a Japanese boy whose dysmorphic features were consistent with those of Shprintzen-Goldberg syndrome. The radiological features were characterized by late-onset craniosynostosis, arachnoda...
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Article
Mental retardation — megaepiphyses —ulnar pseudoepiphyses — hypoplastic fibulae — brachymesophalangia: A new syndrome
The distinctive radiographic features — megaepiphyses, hypoplastic fibulae, ulnar pseudoepiphyses and brachymesophalangy — in a 14-year-old Japanese boy with mental retardation are reported.
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Article
MRI findings of dysplasia epiphysealis hemimelica
We report a boy with dysplasia epiphysealis hemimelica of the knee, particularly emphasizing MRI findings. When he was 14 months of age, plain radiography exhibiting juxta-articular soft tissue mass with small...
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Article
Syringohydromyelia in Hajdu-Cheney syndrome
We report the case of a 10-year-old boy with typical manifestation of Hajdu-Cheney syndrome. MRI demonstrated syringohydromyelia involving almost the entire spinal cord, although neurological symptoms had not ...
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Article
Radiological changes of frontometaphyseal dysplasia in the neonate
The radiological manifestation of frontometaphyseal dysplasia has been well elucidated in later childhood and adulthood, but it has not been thoroughly clarified in the neonate. Here we report the radiological...
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Article
Japanese type of spondylo-metaphyseal dysplasia
Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately ...
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Article
Osteosclerotic metaphyseal dysplasia
A new sclerosing bone disease in two Japanese siblings born to first-degree cousin parents is reported. Clinically the disease is characterized by early developmental delay, hypotonia and later spastic paraple...
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Chapter and Conference Paper
Continuous Hyperthermic and Normothermic Peritoneal Perfusion for the Prevention of Peritoneal Recurrence of Gastric Cancer — A Randomized Control Study
We had reported advantage of continuous hyperthermic peritoneal perfusion (CHPP) for the prevention of peritoneal recurrence after surgery for gastric cancer in a historical control study. We performed CHPP (C...
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Article
Upper GI examinations in older premature infants with persistent apnea: correlation with simultaneous cardiorespiratory monitoring
Upper gastrointestinal examinations with simultaneous cardiorespiratory monitoring were performed in 39 older premature infants with persistent apnea. Swallowing incoordination was documented to be causatively...
