Ontology highlight
ABSTRACT:
SUBMITTER: Karaer K
PROVIDER: S-EPMC4462283 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Karaer Kadri K Yüksel Zafer Z Yalınbaş Esin E Scherer Gerd G
Turk pediatri arsivi 20140601 2
Campomelic dysplasia (CD, OMIM #114290) is a rare autosomal dominant disease characterized with bending and shortness in the long bones of the lower extremities, typical facial features, hypoplastic scapula, costa defect, narrow thorax and pes equinovarus. Campomelic dysplasia occurs with heterozygous mutations in the SOX9 gene in the 17q24 chromosome. The main findings of our four-day old patient included typical facial features, risomelic extremity shortness, angular bending in the long bones ...[more]