| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| A Mégarbané, V Delague, M M Ruchoux, E Rizkallah, C A Maurage, L Viollet, N Rouaix-Emery, A Urtizbere. New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. American journal of medical genetics. vol 101. issue 2. 2001-07-12. PMID:11391656. |
a large inbred lebanese pedigree with congenital spastic ataxia, microcephaly, optic atrophy, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied. |
2001-07-12 |
2023-08-12 |
Not clear |
| H Plauchu, F Encha-Razavi, M Hermier, J Attia-Sobol, D Vitrey, A Verloe. Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. American journal of medical genetics. vol 99. issue 1. 2001-05-31. PMID:11170088. |
mri at 22 weeks of gestation showed microcephaly with agenesis of corpus callosum and cerebellar hypoplasia. |
2001-05-31 |
2023-08-12 |
Not clear |
| S L Archibald, C Fennema-Notestine, A Gamst, E P Riley, S N Mattson, T L Jerniga. Brain dysmorphology in individuals with severe prenatal alcohol exposure. Developmental medicine and child neurology. vol 43. issue 3. 2001-04-05. PMID:11263683. |
microcephaly, disproportionately reduced basal ganglia volume, and abnormalities of the cerebellar vermis and corpus callosum were demonstrated. |
2001-04-05 |
2023-08-12 |
human |
| A Plaja, T Vendrell, D Smeets, E Sarret, T Gili, V Català, C Mediano, J M Schere. Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease. American journal of medical genetics. vol 98. issue 3. 2001-03-29. PMID:11169558. |
comparison of these three and eight other patients with variegated aneuploidy related to pcd demonstrates a phenotype comprising most frequently microcephaly, cns anomalies (with cerebellar affection and migration defects), mental retardation, pre-and postnatal growth retardation, flat and broad nasal bridge, apparently low-set ears, eye and skin abnormalities, and ambiguous genitalia in male patients. |
2001-03-29 |
2023-08-12 |
Not clear |
| C Valmaggia, I Gottlo. Periodic alternating nystagmus in two children with a similar, unusual phenotype. Pediatric neurology. vol 23. issue 5. 2001-02-08. PMID:11118801. |
the report describes two unrelated male children, aged 6 and 8 years, respectively, with congenital periodic alternating nystagmus, congenital strabismus, microcephaly with cortical and cerebellar hypoplasia, mental retardation, low stature, and bat ears. |
2001-02-08 |
2023-08-12 |
Not clear |
| S Akaboshi, M Yoshimura, T Hara, H Kageyama, K Nishikwa, T Kawakami, A Ieshima, K Takeshit. A case of Høyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs. Neuropediatrics. vol 31. issue 3. 2001-01-09. PMID:10963101. |
in addition to the previously described important signs of hhs, i.e., prenatal growth retardation, microcephaly, psychomotor retardation, progressive pancytopenia, immunological abnormalities, and cerebellar hypoplasia and ataxia, we consider that delayed myelination of cerebral white matter and hypoplastic corpus callosum should be added to the list of important signs. |
2001-01-09 |
2023-08-12 |
Not clear |
| P Pavone, E Parano, A Polizzi, R R Trifilett. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome? American journal of medical genetics. vol 92. issue 4. 2000-07-12. PMID:10842296. |
colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome? |
2000-07-12 |
2023-08-12 |
Not clear |
| P GLEES, F E JAME. Cerebellar abnormality as a possible factor in amentia in a case of microcephaly. Psychiatria et neurologia. vol 134. issue 6. 2000-07-01. PMID:13505952. |
cerebellar abnormality as a possible factor in amentia in a case of microcephaly. |
2000-07-01 |
2023-08-12 |
Not clear |
| L Skibste. [Abnormal fetal ultrasound findings after maternal chickenpox infection]. Ugeskrift for laeger. vol 162. issue 18. 2000-06-21. PMID:10846952. |
cvs is characterized by one or more of the following malformations: hypoplasia of a limb, scarring of the skin, microcephaly, cataract, microophthalmia, cerebellar dysplasia, gastrointestinal malformations and urogenital malformations. |
2000-06-21 |
2023-08-12 |
chicken |
| R Yaghmai, A Kimyai-Asadi, K Rostamiani, N S Heiss, A Poustka, W Eyaid, J Bodurtha, H C Nousari, A Hamosh, A Metzenber. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. The Journal of pediatrics. vol 136. issue 3. 2000-04-11. PMID:10700698. |
hoyeraal-hreidarsson syndrome (hhs) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. |
2000-04-11 |
2023-08-12 |
Not clear |
| P Revy, M Busslinger, K Tashiro, F Arenzana, P Pillet, A Fischer, A Durand. A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia. Pediatrics. vol 105. issue 3. 2000-03-21. PMID:10699141. |
a syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, b lymphocyte deficiency, and progressive pancytopenia. |
2000-03-21 |
2023-08-12 |
mouse |
| P Revy, M Busslinger, K Tashiro, F Arenzana, P Pillet, A Fischer, A Durand. A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia. Pediatrics. vol 105. issue 3. 2000-03-21. PMID:10699141. |
we report a new complex syndrome involving profound failure to thrive with severe intrauterine growth retardation, cerebellar abnormalities, microcephaly, a complete lack of b lymphocyte development, and secondary, progressive marrow aplasia. |
2000-03-21 |
2023-08-12 |
mouse |
| J Slee, G Lam, I Walpol. Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. American journal of medical genetics. vol 84. issue 4. 2000-02-18. PMID:10340646. |
we present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. |
2000-02-18 |
2023-08-12 |
Not clear |
| G Rodríguez Criado, M Rufo, I Gómez de Terrero. A second family with Micro syndrome. Clinical dysmorphology. vol 8. issue 4. 1999-11-16. PMID:10532171. |
we present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized by microcephaly, cortical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypogenesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atrophy, retinal coloboma, weight and height below 3rd centile, severe mental retardation, no speech, inability to sit, no sphincter control and a spastic tetraparesis. |
1999-11-16 |
2023-08-12 |
Not clear |
| G Di Gennaro, C Condoluci, C Casali, O Ciccarelli, G Albertin. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. Pediatric neurology. vol 21. issue 2. 1999-10-08. PMID:10465145. |
central nervous system dysfunctions, other than mental retardation, are rarely reported; they include microcephaly, brachycephaly, early hypotonia, feeding disorders, subatrophy of the optic nerves, subarachnoid cyst, cerebellar and brainstem atrophy, and epilepsy. |
1999-10-08 |
2023-08-12 |
Not clear |
| H J ten Donkelaar, P Wesseling, B A Semmekrot, K D Liem, J Tuerlings, J R Cruysberg, P E de Wi. Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings. Acta neuropathologica. vol 98. issue 2. 1999-09-09. PMID:10442561. |
they differ in having a less severe form of microcephaly, a rather normal cytoarchitecture of the cerebral cortex, an apparently normal corpus callosum, no gross cerebellar abnormalities, and no other organ malformations. |
1999-09-09 |
2023-08-12 |
Not clear |
| S H Park, S Becker-Catania, R A Gatti, B F Crandall, J K Emelin, H V Vinter. Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy. Acta neuropathologica. vol 96. issue 4. 1999-01-08. PMID:9796994. |
both cases showed microcephaly with disproportionately marked hypoplasia of the posterior fossa structures including pons, inferior olivary nuclei, and cerebellum. |
1999-01-08 |
2023-08-12 |
Not clear |
| B Chabro. [Ceroid-lipofuscinosis: recent notions]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. vol 4. issue 7. 1997-10-01. PMID:9295908. |
four different forms (infantile, late infantile, juvenile and adult ncl) have been identified from clinical (epilepsy, microcephaly, psychomotor delay, visual defect, pyramidal or extrapyramidal disorders), neurophysiological (eeg, visual evoked potential), neuroimaging (brain and cerebellum atrophy), morphological and genetic criteria. |
1997-10-01 |
2023-08-12 |
Not clear |
| M Nishikawa, T Ichiyama, T Hayashi, S Furukaw. A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. Brain & development. vol 19. issue 2. 1997-06-26. PMID:9105663. |
we describe a male infant with early myoclonic encephalopathy (eme) associated with the congenital nephrotic syndrome, microcephaly, multiple minor anomalies, and cerebellar hypoplasia. |
1997-06-26 |
2023-08-12 |
Not clear |
| R W Leech, S H Johnson, R A Brumbac. Agenesis of cerebellum associated with arrhinencephaly. Clinical neuropathology. vol 16. issue 2. 1997-06-10. PMID:9101111. |
we identified a 38-week gestation infant with microcephaly who had complete cerebellar agenesis associated with arrhinecephaly. |
1997-06-10 |
2023-08-12 |
Not clear |