合計: 2 |
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PMID (PMCID) | ||
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30041615 (6057103) |
MIXED_SAMPLE | Adult |
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. | ||
Hettiaracchchi D, Bonnard C, Jayawardana SMA, Ng AYJ, Tohari S, Venkatesh B, Reversade B, Singaraja R, Dissanayake VHW. BMC Med Genet. 2018;19(1):125. |
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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. | ||
18512233 |
FEMALE | Child |
Complex toe syndactyly with characteristic facial phenotype: a new syndrome? | ||
Sobreira NL, Cernach MC, Brunoni D, Perez AB. Am J Med Genet A. 2008;146A(13):1725-8. |
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Cenani-Lenz syndrome (CLS) is a rare disorder with total syndactyly and irregular synostosis of carpal, metacarpal and phalanges, it may involve ulna and radius and digital rays may be absent, some of these were described with atypical facial features and one patient had renal hypoplasia and vertebral anomalies but our patient does not have the oligodactyly or syndactyly of the hands that is consistently present in all patients with CLS. |