Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A comprehensive approach to diagnosis of patients with lissencephaly using clinical, CT and MRI scan, and sometimes other laboratory data will allow a specific diagnosis to be made in a large majority of patients. The most common diagnoses in order of decreasing frequency will probably prove to be WWS, MDS, and ILS. The remainder constitute a heterogeneous group. Both diagnosis and counseling have been modified by several recent and important advances. Diagnostic criteria for WWS have been revised. Several molecular probes have been located within the MDS critical region in chromosome band 17p13.3. Prenatal diagnosis should prove to be reliable in both WWS and MDS.
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PMID:The neurogenetics of lissencephaly. 264 23

Detailed clinical, pathological, and cytogenetic investigations of patients with lissencephaly over the past several years have demonstrated the existence of at least eight distinct conditions with variable genetic implications. In several of these disorders, especially chromosomally normal MDS, ILS, and CCL, too few patients have been reported to permit citation of accurate recurrence risk figures. Accordingly, we wish to begin a registry of patients with lissencephaly of all types for the purpose of developing such risk figures and request that any available information be sent to one of us (W.B.D. or J.M.O.).
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PMID:Further comments on the lissencephaly syndromes. 390 51

Classical lissencephaly is a severe human neuronal migration disorder characterized by a smooth cerebral surface and a paucity of gyri. Isolated lissencephaly sequence (ILS, OMIM 601545) and Miller-Dieker syndrome (MDS, OMIM 247200) are human malformation syndromes characterized by classical lissencephaly. MDS and some cases of ILS are caused by haploinsufficiency at chromosome 17p13.3. Recent evidence suggests that mutations or deletions of the LIS1 gene, within band 17p13.3, are responsible for classical lissencephaly. LIS1 codes for a subunit of platelet-activating factor acetylhydrolase isoform 1b (PAFAH1B1 or LIS1). To investigate the pathophysiological mechanisms responsible for these two developmental defects, we have undertaken strategies to model these neuronal migration disorders in the mouse. We present a brief review of MDS and ILS, several mouse mutants with cortical neuronal migration defects, and our strategies to model ILS and MDS in the mouse.
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PMID:Murine modelling of classical lissencephaly. 1036 82

Miller Dieker syndrome (MDS, type I lissencephaly) is a neuronal migration disorder, which is caused by deletions along the short arm of chromosome 17 (17p13.3). Recent studies would suggest that the cortical lamination in MDS is inverted, based on morphological criteria. The present neuropathological study examines the cerebral cortex from a 33-week old fetus with MDS using both neuronal and laminar-specific markers. These expression studies demonstrate a relatively preserved cortex and cortical lamination, overlying a layer of immature neurons in MDS brain. The findings are consistent with both a migratory and proliferative defect, giving rise to lissencephaly. Moreover, characterization of such rare human malformations of cortical development by immunohistochemical techniques will provide a greater understanding of the underlying mechanisms.
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PMID:Neocortical neuronal arrangement in Miller Dieker syndrome. 1645 69

Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofacial syndrome) are known to have congenital cardiac malformations (in particular conotruncal defects), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, learning disabilities, and characteristic facial features. This case report describes phenotypic characteristics of a patient with extremely rare instance of having both MDS and 22q11.2 deletion syndrome that is unique in the medical literature. Prognosis in this concurrent phenotype is poor with our patient suffering from several malformations seen in both conditions and expiring in the neonatal period.
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PMID:A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome. 2761 33

A complete ophthalmic examination is not routinely performed on infants with Miller-Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication (not associated with Rubinstein-Taybi syndrome). Retinopathy of prematurity-like proliferative peripheral retinopathy (PPR) was detected in two male first cousins, but was not detected in the female half-cousins. PPR in the first infant resolved by 4 months, but the second infant's PPR progressed, requiring photocoagulation followed by lens-sparing vitrectomy. While ocular abnormalities are more prevalent and severe in other lissencephalopathies, the PPR in these MDS infants underscores the sight-saving potential of performing an ophthalmologic exam with early molecular testing for all lissencephaly infants.
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PMID:Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome. 2970 11

Miller-Dieker syndrome (MDS; OMIM 247200) is a rare contiguous gene deletion syndrome associated with lissencephaly and characteristic facial dysmorphism. T-cell lymphopenia is an immunodeficiency disorder which can be early detected by newborn blood screening, and all live vaccines should be avoided. We report a 2.32-Mb microdeletion at chromosome 17p13.3p13.2 and T-cell lymphopenia in a 6-month-old male infant with MDS. This is, to our knowledge, the first description of these 2 conditions co-occurring in the same patient.
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PMID:Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia. 3103 Jan 99