Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.
We describe a male infant with microcephalic osteodysplastic primordial dwarfism. The clinical and radiological manifestations most closely resemble those of the patient described by Winter et al. to have manifestations overlapping with both osteodysplastic primordial dwarfism types I and III. The classification of the patient within the spectrum of osteodysplastic primordial dwarfism is discussed and the distinctive neuropathology documented.
Department of Medical Genetics, Adelaide Children's Hospital, Australia.
E A
EA
Haan
M E
ME
Furness
S
S
Knowles
L L
LL
Morris
G
G
Scott
J M
JM
Svigos
R
R
Vigneswaren
D000015:Abnormalities, Multiple / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities / Q000473:pathology; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D004392:Dwarfism / Q000145:classification / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities