Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?
We report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypotonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with their children. These patients may represent an autosomal dominant form of Sotos sequence.
Goldstein
D J
DJ
Lilly Research Laboratories, Eli Lilly and Co., Indianapolis, Indiana.
Ward
R E
RE
Moore
E
E
Fremion
A S
AS
Wappner
R S
RS
D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital*; D009759:Nystagmus, Pathologic / Q000235:genetics*; D013285:Strabismus / Q000235:genetics*