A Noonan-like short stature syndrome with sparse hair.
Open Access
- 1 April 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (2) , 161-164
- https://doi.org/10.1136/jmg.23.2.161
Abstract
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.This publication has 7 references indexed in Scilit:
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