Ontology highlight
ABSTRACT:
SUBMITTER: Amouroux C
PROVIDER: S-EPMC3330221 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Amouroux Cyril C Vincent Marie M Blanchet Patricia P Puechberty Jacques J Schneider Anouck A Chaze Anne Marie AM Girard Manon M Tournaire Magali M Jorgensen Christian C Morin Denis D Sarda Pierre P Lefort Geneviève G Geneviève David D
European journal of human genetics : EJHG 20120118 5
Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or Wildervanck syndrome and chromosomal anomalies such as 12q12 deletion. We report on the case of a patient with DRS, developmental delay and particular facial features (horizontal and flared eyebrows, long and smooth philtrum, thin upper lip, full lower lip an ...[more]