Ontology highlight
ABSTRACT:
SUBMITTER: Posey JE
PROVIDER: S-EPMC4449285 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20150402 6
Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform erythroderma, chondrodysplasia punctata, asymmetric shortening of the long bones, and cataracts. We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe sc ...[more]