التفاصيل البيبلوغرافية
| العنوان: |
Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types |
| 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). |
| سنة النشر: |
1993 |
| مصطلحات موضوعية: |
megalocornea heterogeneity, Neuhauser syndrome, iris hypoplasia, macrocephaly, Human health sciences :: Neurology, Sciences de la santé humaine :: Neurologie, Human health sciences :: Pediatrics, Sciences de la santé humaine :: Pédiatrie, art, psy |
| الوصف: |
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. ; Peer reviewed |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| العلاقة: |
https://orbi.uliege.be/handle/2268/63842Test |
| الإتاحة: |
https://orbi.uliege.be/handle/2268/63842Test |
| حقوق: |
undefined |
| رقم الانضمام: |
edsbas.BA194EF5 |
| قاعدة البيانات: |
BASE |
