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.
D004200:Diseases in Twins; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome