Microcephalic osteodysplastic dwarfism (type II-like) in siblings.
We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.
Department of Genetics, Sart Tilman University Hospital Center, University of Liège, Belgium., ,
MeSHDiseases in Twins
Fetal Growth Retardation
Pub Type(s)Case Reports