دورية أكاديمية
Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types
| العنوان: | Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types |
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| المؤلفون: | Verloes, Alain, Journel, H., Elmer, C., Misson, Jean-Paul, Le Merrer, M., Kaplan, J., Van Maldergem, Lionel, Deconinck, H., Meire, F. |
| المصدر: | American Journal of Medical Genetics, 46 (2), 132-137 (1993-04-15) |
| بيانات النشر: | Wiley-Liss Inc |
| سنة النشر: | 1993 |
| المجموعة: | University of Liège: ORBi (Open Repository and Bibliography) |
| مصطلحات موضوعية: | megalocornea heterogeneity, Neuhauser syndrome, iris hypoplasia, macrocephaly, Human health sciences, Pediatrics, Neurology, Sciences de la santé humaine, Pédiatrie, Neurologie |
| الوصف: | peer reviewed ; 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0148-7299 |
| العلاقة: | urn:issn:0148-7299; https://orbi.uliege.be/handle/2268/63842Test; info:hdl:2268/63842; scopus-id:2-s2.0-0027460382; info:pmid:8484397 |
| DOI: | 10.1002/ajmg.1320460206 |
| الإتاحة: | https://doi.org/10.1002/ajmg.1320460206Test https://orbi.uliege.be/handle/2268/63842Test |
| حقوق: | restricted access ; http://purl.org/coar/access_right/c_16ecTest ; info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.91DA2028 |
| قاعدة البيانات: | BASE |
| تدمد: | 01487299 |
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| DOI: | 10.1002/ajmg.1320460206 |