A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

ABSTRACT:

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 hypoplasia.

Case presentation

Our report described an individual with mild phenotypes from China. His parents were not consanguineous. The affected individual was non-dysmorphic. Standard X-ray showed that the both hands have only four metacarpal bones. The distal end of the first metacarpal bone on the right was relatively slender, and the distal phalanx was absent. Multiple phalanges and some soft tissues of both hands were fused. Exome sequencing revealed a novel biallelic c.282C⟩Avariant in low-density lipoprotein rec

SUBMITTER: Fu Y 

PROVIDER: S-EPMC10767612 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature