Mental retardation, short stature, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-Fraser syndrome.
A 21-year-old male with mental retardation, short stature, almond-shaped eyes, small downturned mouth, and coned epiphyses is presented. The clinical presentation, as well as the metacarpal phalangeal pattern profile, was similar to the affected members of a family reported by Hunter et al.: (Hunter et al.: J Med Genet 14:430-437, 1977). In addition, many features of our patient resembled Ruvalcaba syndrome. However, skeletal abnormalities were different. A reciprocal translocation was also observed in 3 members of our patient's family.
Van Maldergem
L
L
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Loverval, Belgium.
Gillerot
Y
Y
Perlmutter
N
N
Wetzburger
C
C
Koulischer
L
L
D000015:Abnormalities, Multiple; D000328:Adult; D001827:Body Height; D004838:Epiphyses / Q000002:abnormalities*; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009056:Mouth Abnormalities; D010375:Pedigree; D013577:Syndrome