We review 72 previously reported and 29 new patients with the possible diagnosis of
Joubert syndrome. We define diagnostic criteria for this syndrome and present the data …

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in
Crouzon syndrome, an autosomal dominant condition causing premature fusion of the …

The clinical, radiologic, neurophysiologic, and pathologic findings in 10 children with
histologically proven Alexander's disease are described, and the presence of two broad …

Although von Ammon'first used the term blephar-phimosis in 1841, it was Vignes2 in 1889
who first associated blepharophimosis with ptosis and epican-thus inversus. In 1921 …

In 1970 Coffin and Siris described three unrelated female children with severe mental and
developmental retardation, sparse scalp hair, and coarse appearing facies with bushy …

The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive
gene. However, patients with this phenotype have been reported with a new dominant …

Conclusions The London Dysmorphology database was started as an aid to diagnosis of
established conditions and the recognition of'new'syndromes. It has now expanded to …

We report on 11 new cases of Proteus syndrome to illustrate the broad range of the
phenotype in this hamartomatous dysplasia. The cardinal manifestations of this sporadic …

Abstract Back Cover Copy This third edition of The Genetics of Neurological Disorders
incorporates the recent advances in genetics and molecular genetics into this …

A small pilot study has been carried out in order to assess the reliability of the detection of
hemizygosity at the elastin locus by fluorescence in situ hybridisation (FISH) analysis, as a …