Reference : Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) synd...
Scientific journals : Article
Human health sciences : Neurology
Human health sciences : Pediatrics
Heterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types
Verloes, Alain [Université de Liège - ULg > > Génétique générale et humaine >]
Journel, H. [> > > >]
Elmer, C. [> > > >]
Misson, Jean-Paul mailto [Université de Liège - ULg > Département des sciences cliniques > Pédiatrie >]
Le Merrer, M. [> > > >]
Kaplan, J. [> > > >]
Van Maldergem, Lionel mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Deconinck, H. [> > > >]
Meire, F. [> > > >]
American Journal of Medical Genetics
Yes (verified by ORBi)
[en] megalocornea heterogeneity ; Neuhauser syndrome ; iris hypoplasia ; macrocephaly
[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.
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