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https://doi.org/10.1186/s12881-018-0646-1
DC Field | Value | |
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dc.title | Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly | |
dc.contributor.author | Hettiaracchchi, D | |
dc.contributor.author | Bonnard, C | |
dc.contributor.author | Jayawardana, S.M.A | |
dc.contributor.author | Ng, A.Y.J | |
dc.contributor.author | Tohari, S | |
dc.contributor.author | Venkatesh, B | |
dc.contributor.author | Reversade, B | |
dc.contributor.author | Singaraja, R | |
dc.contributor.author | Dissanayake, V.H.W | |
dc.date.accessioned | 2020-10-27T10:08:38Z | |
dc.date.available | 2020-10-27T10:08:38Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Hettiaracchchi, D, Bonnard, C, Jayawardana, S.M.A, Ng, A.Y.J, Tohari, S, Venkatesh, B, Reversade, B, Singaraja, R, Dissanayake, V.H.W (2018). Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. BMC Medical Genetics 19 (1) : 125. ScholarBank@NUS Repository. https://doi.org/10.1186/s12881-018-0646-1 | |
dc.identifier.issn | 14712350 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/181189 | |
dc.description.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 LRP4 gene, resulting in an Ile450-to-Val (I450V) substitution. Conclusion: This 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. © 2018 The Author(s). | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.source | Unpaywall 20201031 | |
dc.subject | adolescent | |
dc.subject | adult | |
dc.subject | Article | |
dc.subject | autosomal recessive disorder | |
dc.subject | bilateral postaxial oligodactyly | |
dc.subject | bone radiography | |
dc.subject | case report | |
dc.subject | Cenani Lenz syndactyly syndrome | |
dc.subject | clinical article | |
dc.subject | face dysmorphia | |
dc.subject | female | |
dc.subject | finger malformation | |
dc.subject | gene | |
dc.subject | genetic variability | |
dc.subject | germline mutation | |
dc.subject | heterozygote | |
dc.subject | homozygote | |
dc.subject | human | |
dc.subject | LRP4 gene | |
dc.subject | male | |
dc.subject | Sanger sequencing | |
dc.subject | Sri Lanka | |
dc.subject | Sri Lankan | |
dc.subject | syndactyly | |
dc.subject | whole exome sequencing | |
dc.subject | young adult | |
dc.subject | abnormalities | |
dc.subject | consanguinity | |
dc.subject | finger | |
dc.subject | genetics | |
dc.subject | mutation | |
dc.subject | pedigree | |
dc.subject | radius | |
dc.subject | syndactyly | |
dc.subject | synostosis | |
dc.subject | toe | |
dc.subject | ulna | |
dc.subject | Adolescent | |
dc.subject | Adult | |
dc.subject | Consanguinity | |
dc.subject | Female | |
dc.subject | Fingers | |
dc.subject | Homozygote | |
dc.subject | Humans | |
dc.subject | Male | |
dc.subject | Mutation | |
dc.subject | Pedigree | |
dc.subject | Radius | |
dc.subject | Syndactyly | |
dc.subject | Synostosis | |
dc.subject | Toes | |
dc.subject | Ulna | |
dc.subject | Young Adult | |
dc.type | Article | |
dc.contributor.department | PAEDIATRICS | |
dc.contributor.department | MEDICINE | |
dc.description.doi | 10.1186/s12881-018-0646-1 | |
dc.description.sourcetitle | BMC Medical Genetics | |
dc.description.volume | 19 | |
dc.description.issue | 1 | |
dc.description.page | 125 | |
Appears in Collections: | Elements Staff Publications |
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