title: Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males.
abstract: In this report we describe two unrelated young males with severe mental retardation, persisting hypotonia, and constipation. A maternal uncle of one of these two boys died at the age of 18 months and presented the same clinical symptoms. The triad mental retardation, hypotonia, constipation is a characteristic finding in the FG syndrome, an X-linked mental retardation syndrome. At the present time, there is increasing evidence that the FG syndrome-phenotype may be present in different XLMR conditions, e.g. the fragile X syndrome. In addition to the triad severe mental retardation, hypotonia, constipation, the present two male index patients had a characteristic facial appearance with nasal hypoplasia, relative microcephaly and pre- and postnatal overgrowth. The question is raised whether the present two males are examples of a specific entity within the FG-syndrome-like phenotype.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: C
authors.initials: C
authors.lastname: De Troch
authors.forename: C
authors.initials: C
authors.lastname: Van Mol
authors.forename: L
authors.initials: L
authors.lastname: Vandenbossche
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003248:Constipation; D005145:Face / Q000002:abnormalities*; D006128:Growth; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008831:Microcephaly; D009123:Muscle Hypotonia / Q000151:congenital*; D009666:Nose / Q000002:abnormalities; D013577:Syndrome