Article (Scientific journals)
Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types
Verloes, Alain; Journel, H.; Elmer, C. et al.
1993In American Journal of Medical Genetics, 46 (2), p. 132-137
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Keywords :
megalocornea heterogeneity; Neuhauser syndrome; iris hypoplasia; macrocephaly
Abstract :
[en] 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.
Disciplines :
Pediatrics
Neurology
Author, co-author :
Verloes, Alain ;  Université de Liège - ULiège > Génétique générale et humaine
Journel, H.
Elmer, C.
Misson, Jean-Paul ;  Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie
Le Merrer, M.
Kaplan, J.
Van Maldergem, Lionel ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Deconinck, H.
Meire, F.
Language :
English
Title :
Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types
Publication date :
15 April 1993
Journal title :
American Journal of Medical Genetics
ISSN :
0148-7299
Publisher :
Wiley-Liss Inc, United States - New Jersey
Volume :
46
Issue :
2
Pages :
132-137
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
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