BackgroundCenani-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 presentationwe 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 LRP4 gene, resulting in an Ile450-to-Val (I450V) substitution.ConclusionThis recessive mutation in LRP4 confirmed the diagnosis of CLS syndrome in two patients present with isolated hand syndactyly. This is the first reported case of CLS syndrome in a family of Sri Lankan origin.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0646-1) contains supplementary material, which is available to authorized users.

Objectives : Up-to-date knowledge on changing genetic and genomic diagnostic approaches is essential for a contemporary medical practitioner. This study was carried out to describe Sri Lankan Medical Practitioners’ current knowledge and opinion on modern genetic and genomic diagnostics techniques. Results : Data was collected to an electronic database using an online self-administered questionnaire. A total of 123 respondents completed the questionnaire. Majority had either some or adequate knowledge on applications of basic genetic diagnostic methods such as karyotyping and polymerase chain reaction. Similarly most had either some or adequate knowledge on the use of predictive genetic tests in cancer. However the level of knowledge on the applications of modern diagnostic techniques like Fluorescent in-Situ Hybridization and Next Generation Sequencing remained poor. Majority had inadequate knowledge on newer concepts such as direct-to-consumer genetic testing and personalized medicine. Most agreed upon the inadequacy of undergraduate genetic education and the need of a continuous medical education program to fill this knowledge gap. Both undergraduate and continuous medical education approaches should be modified to improve the knowledge on increasingly complicated technological and ethical aspects associated with modern genetic diagnostics.

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Objectives : Up-to-date knowledge on changing genetic and genomic diagnostic approaches is essential for a contemporary medical practitioner. This study was carried out to describe Sri Lankan Medical Practitioners’ current knowledge and opinion on modern genetic and genomic diagnostics techniques. Results : Data was collected to an electronic database using an online self-administered questionnaire. A total of 123 respondents completed the questionnaire. Majority had either some or adequate knowledge on applications of basic genetic diagnostic methods such as karyotyping and polymerase chain reaction. Similarly most had either some or adequate knowledge on the use of predictive genetic tests in cancer. However the level of knowledge on the applications of modern diagnostic techniques like Fluorescent in-Situ Hybridization and Next Generation Sequencing remained poor. Majority had inadequate knowledge on newer concepts such as direct-to-consumer genetic testing and personalized medicine. Most agreed upon the inadequacy of undergraduate genetic education and the need of a continuous medical education program to fill this knowledge gap. Both undergraduate and continuous medical education approaches should be modified to improve the knowledge on increasingly complicated technological and ethical aspects associated with modern genetic diagnostics.