Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

ABSTRACT:

Background

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.

Case presentation

we report here two patients, born to consanguineous Sri Lankan parents, present with bilateral postaxial oligodactyly limited to upper limbs. While the proband has no noticeable facial dysmorphism, renal impairments or cognitive impairments, his affected sister displays a few mild facial dysmorphic features. Whole exome sequencing of the proband showed a novel deleterious homozygous mutation (c.1348A > G) in the

SUBMITTER: Hettiaracchchi D 

PROVIDER: S-EPMC6057103 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature