Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype
Identifieur interne : 000469 ( PascalFrancis/Corpus ); précédent : 000468; suivant : 000470Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype
Auteurs : Karmen M. Trzupek ; Rena E. Falk ; Joseph L. Demer ; Richard G. WeleberSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe two siblings with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Patient 1 has multiple atrophic and dysplastic-appearing lesions of the retina and choroid in each eye. An ERG at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both have mental retardation with hypotonia and severe microcephaly. Chorioretinopathy and retinal folds have been described independently in microcephaly with chorioretinopathy. The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism.
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Format Inist (serveur)
NO : | PASCAL 07-0289345 INIST |
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ET : | Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype |
AU : | TRZUPEK (Karmen M.); FALK (Rena E.); DEMER (Joseph L.); WELEBER (Richard G.) |
AF : | Casey Eye Institute and Department of Ophthalmology, Oregon Health & Science University/Portland, Oregon/Etats-Unis (1 aut., 4 aut.); Medical Genetics Institute, Cedars-Sinai Medical Center, UCLA School of Medicine/Los Angeles, California/Etats-Unis (2 aut.); Jules Stein Eye Institute, UCLA School of Medicine/Los Angeles, California/Etats-Unis (3 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | American journal of medical genetics. Part A; ISSN 1552-4825; Etats-Unis; Da. 2007; Vol. 143; No. 11; Pp. 1218-1222; Bibl. 1/2 p. |
LA : | Anglais |
EA : | Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe two siblings with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Patient 1 has multiple atrophic and dysplastic-appearing lesions of the retina and choroid in each eye. An ERG at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both have mental retardation with hypotonia and severe microcephaly. Chorioretinopathy and retinal folds have been described independently in microcephaly with chorioretinopathy. The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism. |
CC : | 002B23; 002B17D; 002B09I; 002B12B04 |
FD : | Microcéphalie; Choriorétinopathie; Mosaïcisme; Lymphoedème; Dysplasie; Dystrophie; Etude cas; Homme; Lignée germinale; Phénotype; Symptomatologie; Rétine |
FG : | Oeil pathologie; Encéphale pathologie; Maladie congénitale; Malformation; Système nerveux central pathologie; Système nerveux pathologie; Rétinopathie; Uvée pathologie; Appareil circulatoire pathologie; Lymphatique pathologie |
ED : | Microcephaly; Chorioretinopathy; Mosaicism; Lymphedema; Dysplasia; Dystrophy; Case study; Human; Germ line; Phenotype; Symptomatology; Retina |
EG : | Eye disease; Cerebral disorder; Congenital disease; Malformation; Central nervous system disease; Nervous system diseases; Retinopathy; Uvea disease; Cardiovascular disease; Lymphatic vessel disease |
SD : | Microcefalia; Coriorretinopatía; Mosaicismo; Linfedema; Displasia; Distrofia; Estudio caso; Hombre; Línea germinal; Fenotipo; Sintomatología; Retina |
LO : | INIST-17405A.354000149881340120 |
ID : | 07-0289345 |
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Pascal:07-0289345Le document en format XML
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<front><div type="abstract" xml:lang="en">Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe two siblings with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Patient 1 has multiple atrophic and dysplastic-appearing lesions of the retina and choroid in each eye. An ERG at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both have mental retardation with hypotonia and severe microcephaly. Chorioretinopathy and retinal folds have been described independently in microcephaly with chorioretinopathy. The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism.</div>
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<ET>Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype</ET>
<AU>TRZUPEK (Karmen M.); FALK (Rena E.); DEMER (Joseph L.); WELEBER (Richard G.)</AU>
<AF>Casey Eye Institute and Department of Ophthalmology, Oregon Health & Science University/Portland, Oregon/Etats-Unis (1 aut., 4 aut.); Medical Genetics Institute, Cedars-Sinai Medical Center, UCLA School of Medicine/Los Angeles, California/Etats-Unis (2 aut.); Jules Stein Eye Institute, UCLA School of Medicine/Los Angeles, California/Etats-Unis (3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>American journal of medical genetics. Part A; ISSN 1552-4825; Etats-Unis; Da. 2007; Vol. 143; No. 11; Pp. 1218-1222; Bibl. 1/2 p.</SO>
<LA>Anglais</LA>
<EA>Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, retinal folds, lymphedema, and mental retardation. We describe two siblings with microcephaly, mental retardation, and variable retinal and choroidal abnormalities. Patient 1 has multiple atrophic and dysplastic-appearing lesions of the retina and choroid in each eye. An ERG at 5 months of age disclosed markedly subnormal scotopic and photopic responses with delayed flicker timing. Patient 2 has bilateral macular folds with vitreoretinopathy, serous retinal detachments, glaucoma, and cataracts OU. Both have mental retardation with hypotonia and severe microcephaly. Chorioretinopathy and retinal folds have been described independently in microcephaly with chorioretinopathy. The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism.</EA>
<CC>002B23; 002B17D; 002B09I; 002B12B04</CC>
<FD>Microcéphalie; Choriorétinopathie; Mosaïcisme; Lymphoedème; Dysplasie; Dystrophie; Etude cas; Homme; Lignée germinale; Phénotype; Symptomatologie; Rétine</FD>
<FG>Oeil pathologie; Encéphale pathologie; Maladie congénitale; Malformation; Système nerveux central pathologie; Système nerveux pathologie; Rétinopathie; Uvée pathologie; Appareil circulatoire pathologie; Lymphatique pathologie</FG>
<ED>Microcephaly; Chorioretinopathy; Mosaicism; Lymphedema; Dysplasia; Dystrophy; Case study; Human; Germ line; Phenotype; Symptomatology; Retina</ED>
<EG>Eye disease; Cerebral disorder; Congenital disease; Malformation; Central nervous system disease; Nervous system diseases; Retinopathy; Uvea disease; Cardiovascular disease; Lymphatic vessel disease</EG>
<SD>Microcefalia; Coriorretinopatía; Mosaicismo; Linfedema; Displasia; Distrofia; Estudio caso; Hombre; Línea germinal; Fenotipo; Sintomatología; Retina</SD>
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<ID>07-0289345</ID>
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