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Symphalangism in children. Case report and review of the literature.
Letts M, Davidson D, Beaulé P. Letts M, et al. Clin Orthop Relat Res. 1999 Sep;(366):178-85. Clin Orthop Relat Res. 1999. PMID: 10627733 Review.
Analysis of the pedigrees of affected families reveals this trait to be autosomal dominant. The authors present the case of a 9-year-old boy with bilateral symphalangism of the proximal interphalangeal joints in the fingers and toes. His father is affected …
Analysis of the pedigrees of affected families reveals this trait to be autosomal dominant. The authors present the case of a 9-year- …
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
Kantaputra PN, Chalidapong P. Kantaputra PN, et al. Am J Med Genet. 2000 Jul 17;93(2):126-31. doi: 10.1002/1096-8628(20000717)93:2<126::aid-ajmg9>3.0.co;2-s. Am J Med Genet. 2000. PMID: 10869115 Review.
We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM *188770). The father had polysyndactyly of triphalangeal thumbs, syndactyly o …
We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-p …
A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J. Fu Y, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2319. doi: 10.1002/mgg3.2319. Epub 2023 Nov 27. Mol Genet Genomic Med. 2024. PMID: 38013226 Free PMC article. Review.
BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in the fusion of fingers or toes, disordered phalangeal structure, shortening or fusion of the radius and ulna, and renal hypopla …
BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in …