Background Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ ...

Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis ...

3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...

Background: Psoriasis is a genetically complex, chronic inflammatory skin disease. The authors have previously identified a susceptibility locus on chromosome 19p13 ...

Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...

Correspondence to Dr Norbert Weiss, Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Praha 166 10, Czech Republic; weiss{at}uochb.cas.cz; Dr Gerald W Zamponi, Department of ...

We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a ...