A new case of the osteodysplastic primordial dwarfism type II.
We describe a girl with extreme growth retardation of prenatal onset, short limbs, and somewhat unusual facial appearance. She represents the 6th patient with osteodysplastic primordial dwarfism type II. The distant consanguinity of the parents of this patient suggests possible autosomal recessive inheritance.
D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D010375:Pedigree; D011859:Radiography; D013577:Syndrome