title: SHORT syndrome.
abstract: We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic features of the SHORT syndrome. An additional sign of all described patients is the slight build with lack of subcutaneous fat. Resistance to insulin was suggested by an oral glucose tolerance test in the mother, whereas the test was normal in the index patient at the age of 2 years 2 months. We review the literature and discuss the name-giving symptoms critically. Five familial cases in different generations, equally affected male and female patients and male-to-male transmission point to an autosomal dominant mode of inheritance.
authors.affiliation: Institute of Human Genetics, Johann Wolfgang Goethe University, Theodor-Stern-Kai 7, 60590 Frankfurt, Germany. r.koenig@em.uni-frankfurt.de
authors.forename: Rainer
authors.initials: R
authors.lastname: Koenig
authors.forename: Leticia
authors.initials: L
authors.lastname: Brendel
authors.forename: Sigrun
authors.initials: S
authors.lastname: Fuchs
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001827:Body Height; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D008297:Male; D040521:Subcutaneous Tissue / Q000002:abnormalities*