Hospital Nacional de Pediatría “JP Garrahan”, Department of Neurology, Combate de los Pozos 1881. CP 1245, Buenos Aires, Argentina.
- Page(s) : 173-6
- Année de parution : 2000
Coffin-Lowry syndrome (CLS) was described by Coffin et
al.  and Lowry et al.  in 1966 and 1971 respectively
and was recognised as a clinical entity by Tentamy et al. .
It is transmitted by X-linked semi-dominant inheritance. The gene maps
to Xp 22 [4, 5]. This dysmorphic syndrome is recognisable in males, who
are usually severely retarded and have the following facial features:
hypertelorism with down-slanting palpebral fissures, [...]