Smith-Fineman-Myers syndrome in two brothers.
We report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith-Fineman-Myers syndrome. All 5 of the reported cases have been males, suggesting X-linked inheritance.
Adès
L C
LC
Department of Medical Genetics, Prince of Wales Children's Hospital, Sydney, Australia.
Kerr
B
B
Turner
G
G
Wise
G
G
D000015:Abnormalities, Multiple; D001827:Body Height / Q000502:physiology*; D003456:Cryptorchidism / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005183:Failure to Thrive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome