Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.
We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second.
Vichi
G F
GF
Department of Radiology, A. Meyer Children's Hospital, Florence, Italy.
Currarino
G
G
Wasserman
R L
RL
Duvina
P L
PL
Filippi
L
L
D000367:Age Factors; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004392:Dwarfism / Q000145:classification / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000401:mortality; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011379:Prognosis; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed