Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.
We describe a female infant with low birthweight osteodysplastic microcephalic dwarfism. The child has many manifestations in common with those seen in osteodysplastic primordial dwarfism types I and III. The classification of this heterogeneous group of disorders is discussed in the light of the above case.
D000015:Abnormalities, Multiple / Q000235:genetics; D004392:Dwarfism / Q000145:classification / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome