Ontology highlight
ABSTRACT:
SUBMITTER: Hettiaracchchi D
PROVIDER: S-EPMC6057103 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Hettiaracchchi Dineshani D Bonnard Carine C Jayawardana S M A SMA Ng Alvin Yu Jin AYJ Tohari Sumanty S Venkatesh Byrappa B Reversade Bruno B Singaraja Roshni R Dissanayake V H W VHW
BMC medical genetics 20180724 1
<h4>Background</h4>Cenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalanges, radioulnar synostosis and mesomelic shortness of the limbs, with lower limbs usually being much less affected than upper limbs.<h4>Case presentation</h4>we report here two patients, born to consanguineous Sri Lankan parents, present with bilateral postaxial oligodacty ...[more]