3+4+Supplementum/2012 - Společnost pro pojivové tkáně

RTG snímky z archivu Ambulantního centra pro vady pohybového aparátu s.r.o., Olšanská 7, Praha 3
X-rays from archive of Ambulant Centre for Defects of Locomotor Apparatus Prague
The major radiographic features
are shortening of one or more phalanges
and/or metacarpals, characteristic epiphyseal
dysplasia of affected tubular bones
with cone-shaped epiphyses, Giedion type
12, premature epiphyseal fusion and ivory
epiphyses in distal phalanges. Small capital
femoral epiphyses are sometimes associated
with Perthes-like changes.
differential diagnosis
The tricho-rhino-phalangeal syndrome,
type II, differs by the presence of multiple
cartilaginous exostoses and mental
deficiency. In Albright osteodystrophy and
Acrodysostosis the metacarpals and phalanges
are usually shorter and broader
than in TRPS-1, and the epiphyseal abnor-
malities are different. Other brachydactyly
syndromes differ by the type of digital
abnormalities and absence of the facial and
hair changes characterizing tricho-rhino-
-phalangeal dysplasia.
Genetics and molecular pathology
The genetic transmission is autosomal
dominant with considerable variability of
phenotypic expression. TRPS-1 is caused
by mutations of the TRPS1 gene located on
chromosome 8q24.12. The gene encodes
a zinc-finger transcription factor.
Course and prognosis
Facial and digital abnormalities are
rarely handled by plastic and hand sur-
POHYBOVÉ ÚSTROJÍ, ročník 19, 2012, č. 3+4 175