Biomedical subjects
M Masuno
Publications and source records attributed to M Masuno.
[Young-Simpson syndrome].
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De novo trisomy 16p11.2-qter: report of an infant.
We report on a four-month-old girl with a de novo trisomy 16q [47,XX, +del(16)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,tel16q+, tel16p-)]. She had minor facial anomalies, limb anomalies, urogenital abnormalities, and severe cardiovascular defects. Autopsy confirmed left hypoplastic lung, total anomalous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilateral hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia. Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin.
Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis.
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A case of Noonan's syndrome with possible associated neuroblastoma.
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Congenital primitive epithelial tumor of the liver showing focal rhabdoid features, placental involvement, and clinical features mimicking multifocal hemangioma or stage 4S neuroblastoma.
We describe an unusual case of congenital primitive epithelial tumor of the liver with focal rhabdoid features. The present case is unique and informative in the following aspects: (1) a first case of congenital epithelial tumor of the liver with no hepatocytic differentiation but focal rhabdoid features, (2) clinical similarities to multicentric hemangioma or stage 4S neuroblastoma, (3) diagnosis obtained from histological examination of the placenta immediately after birth.
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.
We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Cause and inheritance are unknown.
[Rhizomelic chondrodysplasia punctata].
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[Short rib-polydactyly syndrome, Majewski type].
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[Chondroectodermal dysplasia, Ellis-van Creveld syndrome].
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Apple-peel intestinal atresia associated with balanced reciprocal translocation t(2;3)(q31.3;p24.2) mat.
Apple peel intestinal atresia is an apple-peel-appearing bowel obstruction of unknown cause. We describe a Japanese girl with the apple-peel jejunal atresia associated with apparently balanced reciprocal translocation between chromosomes 2 and 3, t(2;3)(q31. 3;p24.2)mat. The translocation breakpoints in the patient may become candidate regions for the putative gene causing apple-peel atresia. Alternatively, the association of the two abnormalities in the patient is coincidental because her phenotypically normal mother had the same chromosome translocation.
Toriello-Carey syndrome with endocardial fibroelastosis.
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Association of microphthalmia with esophageal atresia: report of two new patients and review of the literature.
We report on two new patients who had unilateral microphthalmia and esophageal atresia. A similar association was previously described in six patients. The accumulation of the eight affected patients provides further support for recognizing this association as a distinct syndrome.
Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.
Shwachman-Diamond syndrome is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. There is broad clinical variability; the extent of heterogeneity is unknown but comparisons within a large cohort of patients show no striking differences between patients of families with single or multiple affected offspring. Segregation analysis of a cohort of 69 families has suggested an autosomal recessive mode of inheritance. A single constitutional de novo chromosome rearrangement was reported in a Japanese patient involving a balanced translocation, t(6;12)(q16.2;q21.2), thereby suggesting possible loci for a genetic defect. Evenly spaced microsatellite markers spanning 26-32 cM intervals from D6S1056 to D6S304 and D12S375 to D12S346 were analyzed for linkage in members of 13 Shwachman-Diamond syndrome families with two or three affected children. Two-point lod scores were calculated for each marker under assumptions of recessive inheritance and complete penetrance. Negative lod scores indicated exclusion of both chromosome regions. Further, affected sibs were discordant for inheritance of chromosomes in most families based on constructed haplotypes. The cytogenetic abnormality is not associated with most cases of Shwachman-Diamond syndrome.
Supernumerary ring chromosome 5 identified by FISH.
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Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.
Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. We describe the cases of a 5-year-old boy and a 7-year-old girl with a similar constellation of symptoms and compared them with previously reported patients.