RT Journal Article
SR Electronic
T1 A Noonan-like short stature syndrome with sparse hair.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 161
OP 164
DO 10.1136/jmg.23.2.161
VO 23
IS 2
A1 Baraitser, M
A1 Patton, M A
YR 1986
UL http://jmg.bmj.com/content/23/2/161.abstract
AB Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies.