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Gene Review:

LRSL - Larsen-like syndrome

Homo sapiens

Bonaventure, J. et al., Chen, H. et al., James, P.A. et al.

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High impact information on LRSL

This study confirms that this Larsen-like syndrome is a disorder of connective tissue, possibly involving dysmaturity of the collagen fibers, with a predilection for joint capsules and tracheal cartilage [1].
Previously two cases have been reported where a Larsen-like syndrome was associated with unbalanced chromosomal translocations resulting in partial trisomy 1q and monosomy distal 6p [2].

Analytical, diagnostic and therapeutic context of LRSL

We report seven children from three families who had a set of common clinical features suggestive of Larsen-like syndrome, including unusual facies, bilateral dislocations of the knees and elbows, club foot, and short stature [3].

References

A lethal, Larsen-like multiple joint dislocation syndrome. Chen, H., Chang, C.H., Perrin, E., Perrin, J. Am. J. Med. Genet. (1982) [Pubmed]
Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p. James, P.A., Aftimos, S., Oei, P. Am. J. Med. Genet. A (2003) [Pubmed]
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. Bonaventure, J., Lasselin, C., Mellier, J., Cohen-Solal, L., Maroteaux, P. J. Med. Genet. (1992) [Pubmed]

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