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Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R. Afzal M, et al. Eur J Med Genet. 2017 Aug;60(8):421-425. doi: 10.1016/j.ejmg.2017.05.004. Epub 2017 May 27. Eur J Med Genet. 2017. PMID: 28559208
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna. .. …
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized …
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.
Bukowska-Olech E, Sowińska-Seidler A, Szczałuba K, Jamsheer A. Bukowska-Olech E, et al. Birth Defects Res. 2020 May 15;112(9):652-659. doi: 10.1002/bdr2.1676. Epub 2020 Apr 14. Birth Defects Res. 2020. PMID: 32286743
Consequently, increased bone formation occurs, which in the case of LRP4 mutations results in sclerosteosis type 2 (SOST2). Alterations within the LRP4 may also cause Cenani-Lenz syndactyly syndrome (CLSS), congenital myasthenia or isolated syndactyly. …
Consequently, increased bone formation occurs, which in the case of LRP4 mutations results in sclerosteosis type 2 (SOST2). Alterations with …
Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report.
Egodawaththe NS, Seneviratne SN, Gunasekara S, Amarasekara SM, Weerasekara K. Egodawaththe NS, et al. J Med Case Rep. 2020 Sep 16;14(1):166. doi: 10.1186/s13256-020-02472-z. J Med Case Rep. 2020. PMID: 32933589 Free PMC article.
However, development of hypothyroidism in children with this peculiar bony deformity has rarely been described in the medical literature, with the exception of Cenani-Lenz Syndactyly syndrome. CASE PRESENTATION: We report the case of a 6-year-old Sri L …
However, development of hypothyroidism in children with this peculiar bony deformity has rarely been described in the medical literature, wi …