• Publications
  • Influence
Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated withExpand
  • 61
  • 4
Evidence for frequent divergence impairment in French dyslexic children: deficit of convergence relaxation or of divergence per se?
AimThere is a controversy as to whether dyslexic children present visuo-motor disabilities such as vergence and accommodative problems assessed with orthoptic tests. The purpose of this study is toExpand
  • 46
  • 4
  • PDF
Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion
Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki–Schaffer syndrome or proximal 11p deletionExpand
  • 32
  • 3
Relationships between black tea consumption and key health indicators in the world: an ecological study
Objectives The aim of this study was to investigate potential statistical relationships between black tea consumption and key health indicators in the world. The research question is: Does teaExpand
  • 34
  • 3
  • PDF
Ocular manifestation as first sign of Coronavirus Disease 2019 (COVID-19): Interest of telemedicine during the pandemic context
Abstract We report here the case of a 27-year-old man who consulted by telemedicine during the Coronavirus Disease 2019 (COVID-19) pandemic, due to foreign body sensation and left eye redness.Expand
  • 42
  • 2
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia
Purpose Aniridia and congenital cataract represent rare but severe developmental ocular conditions. We examined 33 probands from France for mutations in several transcription factors associated withExpand
  • 44
  • 2
  • PDF
Sudden blindness caused by anterior ischemic optic neuropathy in 5 children on continuous peritoneal dialysis.
The authors report the occurrence of sudden blindness in 5 children (mean age, 32 months; range, 11 to 60) during continuous peritoneal dialysis regimen. All children presented with loss of lightExpand
  • 34
  • 2
Binocular coordination of saccades in children with strabismus before and after surgery.
PURPOSE To examine the quality of binocular coordination of saccades in children with various types of strabismus and the effect of strabismus surgery. METHODS Eight subjects were tested (5-15Expand
  • 52
  • 2
  • PDF
High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis
We aimed to determine the occurrence of pituitary dysfunction and additional malformations in patients with congenital nasal pyriform aperture stenosis (CNPAS) and to predict which patients are atExpand
  • 25
  • 2
...
1
2
3
4
5
...