Fountain syndrome: further delineation of the clinical syndrome and follow-up data.
We present five patients with the clinical diagnosis of Fountain's syndrome, an autosomal recessive entity with mental retardation, deafness, skeletal abnormalities and coarse face with full lips as cardinal features and review all cases reported so far. We report two new isolated cases, and present follow-up data on three previously reported patients. The clinical features of all these patients are presented to further delineate the clinical picture and the natural course of this rare syndrome. We propose that epilepsy, short stature, large head circumference, broad, plump hands and the remarkable behavior are important accessory findings of this syndrome. The clinical features of this syndrome become more evident with advancing age.
Center for Human Genetics, University of Leuven, Belgium.
G J
GJ
Van Buggenhout
C M
CM
Van Ravenswaaij-Arts
W O
WO
Renier
M P
MP
Van de Wiel
J C
JC
Trommelen
E
E
Pijkels
B C
BC
Hamel
J P
JP
Fryns
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D013577:Syndrome