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Chondrodysplasia punctata
Chondrodysplasia
punctata
is a clinically and
genetically
diverse
group of
rare diseases
, first described by
Erich
Conradi
, that
share
the
features
of
stippled epiphyses
and
skeletal
changes
.
Types
Rhizomelic
chondrodysplasia
punctata,,
X-linked recessive chondrodysplasia punctata
Conradi–Hünermann
syndrome
Autosomal dominant
chondrodysplasia punctata