Microcephalic osteodysplastic dwarfism (Type ll‐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 fcatures 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 faciès and delayed psychomotor development. X‐ray findings include metaphysal flare, V‐shaped femoral meta‐physes and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.