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  1. Fulltext Marfan or marfanoid: a case study
    Tai YS
    Med J Malaysia, 1986 Sep;41(3):233-5.
    PMID: 3670140
    A patient with marfanoid habitus was admitted to the General Hospital, Kuala Lumpur in October 1985 for surgical closure of an atrial septal defect. He was suspected to have Marfan Syndrome but there was no involvement of the aorta nor the eye. The clinical features were intermediate between that of the Marfan Syndrome and the Ehler's Danlos Syndrome. It is suggested that this could be a separate distinct entity within the heritable disorders of connective tissue known as the Marfanoid Hypermobility Syndrome.
    Matched MeSH terms: Ehlers-Danlos Syndrome/diagnosis*
  2. Fulltext Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency
    Lautrup CK, Teik KW, Unzaki A, Mizumoto S, Syx D, Sin HH, et al.
    Mol Genet Genomic Med, 2020 05;8(5):e1197.
    PMID: 32130795 DOI: 10.1002/mgg3.1197
    BACKGROUND: Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis. Forty-one patients with mcEDS-CHST14 and three patients with mcEDS-DSE have been described in the literature.

    METHODS: Clinical, molecular, and glycobiological findings in three additional patients with mcEDS-DSE were investigated.

    RESULTS: Three patients from two families shared craniofacial characteristics (hypertelorism, blue sclera, midfacial hypoplasia), skeletal features (pectus and spinal deformities, characteristic finger shapes, progressive talipes deformities), skin features (fine or acrogeria-like palmar creases), and ocular refractive errors. Homozygous pathogenic variants in DSE were found: c.960T>A/p.Tyr320* in patient 1 and c.996dupT/p.Val333Cysfs*4 in patients 2 and 3. No dermatan sulfate was detected in the urine sample from patient 1, suggesting a complete depletion of DS.

    CONCLUSION: McEDS-DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS-CHST14. However, the burden of symptoms seems lower in patients with mcEDS-DSE.

    Matched MeSH terms: Ehlers-Danlos Syndrome
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