Alain Verloes

TL;DR: It is indicated that behaviors and neurochemical phenotypes typically associated with autism can occur in patients with common WBSCR deletions, and the results raise intriguing questions about phenotypic heterogeneity in WBS and regarding genetic and/or environmental factors interacting with specific genes at 7q11.23 sensitive to dosage alterations that can influence the development of social communication skills.

TL;DR: A syndrome of progressive joint stiffness, glaucoma, and lens dislocation observed in three generations is reported and the acronym GEMSS syndrome is coined to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.

TL;DR: A highly informative marker at locus D7S1870, which detected failure of parental inheritance in almost 75% of cases of WS is reported here, which can be regarded as a reliable and useful diagnostic tool in suspected cases ofWS as well as in complicated forms of supravalvular aortic stenosis.

TL;DR: The Coffin‐Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies, and the occurrence of severe manifestations in males, with no instance of male‐to‐male transmission, suggests an X‐linked inheritance.

TL;DR: 3C syndrome is proposed as an easy acronym for this Cranio‐Cerebello‐Cardiac dysplasia, a child with an unusual pattern of malformations with severe delay in bone maturation, wide fontanelles and facial dysmorphism.