Identification of antigens recognized in the developing mouse brain by the RC2 antibody, a marker of radial gliaLeprince, Pierre ; ; et alin International Journal of Developmental Neuroscience (1996), 14(Sup. 1), 84 Detailed reference viewed: 13 (6 ULg) Retard neuromoteur et neuropsychologique: critères de recours à une prise en charge spécialiséeMisson, Jean-Paul ; Dubru, Jean-Marie ; et alin Percentile (1996), .(3), 103-107 Detailed reference viewed: 41 (8 ULg) Reconnaissance des malformations et pathologies prénatales du système nerveux centralMisson, Jean-Paul ; Dubru, Jean-Marie ; in Acta Paediatrica Belgica (1996), 28(3), 204-215 Detailed reference viewed: 5 (0 ULg) Caractéristiques des lésions résultant d'une pathologie périnataleDubru, Jean-Marie ; ; Misson, Jean-Paul ![]() in Acta Paediatrica Belgica (1996), 28(3), 203-204 Detailed reference viewed: 14 (3 ULg) Images liées à la pathologie traumatique du système nerveux central; Dubru, Jean-Marie ; Misson, Jean-Paul ![]() in Acta Paediatrica Belgica (1996), 28(3), 216 Detailed reference viewed: 4 (1 ULg) La Biologie clinique en pédiatrie: hypotonie et retard moteurMisson, Jean-Paul ; ; Dubru, Jean-Marie et alin Acta Paediatrica Belgica (1996), 28(2), 95 Detailed reference viewed: 15 (2 ULg) Heterogeneity of sponastrime dysplasia: Delineation of a variant form with severe mental retardationVerloes, Alain ; Misson, Jean-Paul ; et alin Clinical Dysmorphology (1995), 4(3), 208-215 We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three ... [more ▼] We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three sibships with this disorder have been reported. In two families, affected patients were of normal intelligence. In the third one, as well as our case, the dysplasia was complicated by severe mental retardation of unknown origin. The severity of the retardation in our case and a previous report, and some difference in the gestalt and radiological aspects, suggest that SPONASTRIME dysplasia is a heterogeneous disorder. We provisionally propose to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe mental impairment. [less ▲] Detailed reference viewed: 10 (0 ULg) Caractéristiques neuroradiologiques du déficit en Pyruvate CarboxylaseMisson, Jean-Paul ; ; Rigo, Jacques et alin Société Européenne de Neurologie Pédiatrique (1995) Detailed reference viewed: 6 (0 ULg) Méningiome volumineux chez l'enfant: discussion à propos d'un cas chez une fillette de 5 ansMisson, Jean-Paul ; ; et alin Société Belge de Neurologie Pédiatrique (1995) Detailed reference viewed: 13 (0 ULg) Central neuroblastoma in a 14 year-old girl; Dresse, Marie-Françoise ; Misson, Jean-Paul et alin 4th International Symposium on Neuroblastoma Screening (1995) Detailed reference viewed: 3 (0 ULg) Gliomatose méningée cérébro-spinale diffuse chez un enfant traité par hormone de croissance dans le cadre d!un syndrome de Turner; ; et al in Société Belge de Neurologie Pédiatrique (1995) Detailed reference viewed: 48 (1 ULg) Lambdoid synostosis - pachycephaly: diagnosis and treatmentMisson, Jean-Paul ; ; et alin Developmental Medicine and Child Neurology. Supplement (1995), 37(3), 87 Detailed reference viewed: 21 (1 ULg) Leber-associateddystonia with putamen necrosis; Misson, Jean-Paul ; et alin Annals of Neurology (1994) Detailed reference viewed: 8 (0 ULg) Sponastrime dysplasia with mental retardation: A distinct entity; Misson, Jean-Paul ; Dubru, Jean-Marie et alin 3ème Dysmorphology Meeting (1994) Effet préventif du Sabril dans un cas présymtomatique de maladie de Bourneville; ; Dubru, Jean-Marie et alin Société Belge de Neurologie Pédiatrique (1994) Detailed reference viewed: 1 (0 ULg) Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable typesVerloes, Alain ; ; et alin American Journal of Medical Genetics (1993), 46(2), 132-137 Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhauser syndrome (megalocornea-mental retardation syndrome). Here we report 4 ... [more ▼] Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhauser syndrome (megalocornea-mental retardation syndrome). Here we report 4 new cases of megalocornea and mental retardation. Those unrelated patients have a consistent pattern of anomalies with possible recessive inheritance which clearly differs from that of the original patients of Neuhauser et al. [1975]. We discuss the heterogeneity of the syndromes with megalocornea and mental retardation. Based on these cases and on a review of the literature, we suggest a provisional clinically oriented classification in 5 subtypes: (1) a recessive form type Neuhauser (with iris hypoplasia and minor anomalies), (2) a recessive form type Frank-Temtamy (with camptodactyly, scoliosis and growth retardation), (3) a recessive type 3, including our 4 personal cases (with normal irides, severe hypotonia, relative or absolute macrocephaly and minor anomalies), (4) a possible Frydman type (with normal irides, megalencephaly and obesity), and (5) provisionally unclassifiable cases. [less ▲] Detailed reference viewed: 10 (0 ULg) Neuroblastome primitif du système nerveux central; ; et al in Revue Neurologique (1993), 149 Detailed reference viewed: 8 (0 ULg) Sclérodermie en coup de sabre et hémiatrophie faciale de Perry-Romberg: A propos d'un cas; Dubru, Jean-Marie ; et alin 30ème Congrès de l'Association des Pédiatres de Langue Française (1993) Detailed reference viewed: 50 (0 ULg) Schizencephaly of the frontal opercula mimicing sylvian arachnoidal cystMisson, Jean-Paul ; Collignon, Jacques ![]() in 3rd biennal Meeting of European Society of Magnetic Resonance in Pediatric Neurology (1993) Detailed reference viewed: 4 (0 ULg) Syndrome oculo-cérébro-cutané de Delleman; Verloes, Alain ; et alin 30ème Congrès de l'Association des Pédiatres de Langue Française (1993) Detailed reference viewed: 7 (0 ULg) |
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