Total: 7 |
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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. | ||
25676610 |
MIXED_SAMPLE | |
A novel APC mutation defines a second locus for Cenani-Lenz syndrome. | ||
Patel N, Faqeih E, Anazi S, Alfawareh M, Wakil SM, Colak D, Alkuraya FS. J Med Genet. 2015;52(5):317-21. |
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Cenani-Lenz syndrome (CLS) is an autosomal recessive condition characterised by a unique pattern of syndactyly, and variable penetrance of renal agenesis and facial dysmorphism. | ||
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. | ||
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. | ||
14577675 |
FEMALE | Adult |
Two unusual types of syndactyly in the same family; Cenani-Lenz type and "new" type versus severe type I syndactyly? | ||
Percin EF, Percin S. Genet Couns. 2003;14(3):313-9. |
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Cenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand. | ||
10756427 |
FEMALE | Infant |
A variant of Cenani-Lenz type syndactyly. | ||
Seven M, Yuksel A, Ozkilic A, Elcioglu N. Genet Couns. 2000;11(1):41-7. |
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Cenani-Lenz syndrome is a form of complete syndactyly resembling the spoon hand in Apert syndrome. | ||
8831136 |
MIXED_SAMPLE | |
Cenani-Lenz syndrome in father and daughter. | ||
De Smet L, De Beer P, Fryns JP. Genet Couns. 1996;7(2):153-7. |
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Cenani-Lenz syndrome has been delineated as a type of complete syndactyly resembling the spoon hand seen in Apert syndrome, with as important additional feature, the fusion of metacarpals and disorganization of the phalanges. |