Premium
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives
Author(s) -
Yesodharan Dhanya,
Krishnan Vivek,
Nair Indu R.,
Ganapathy Aparna,
Mannan Ashraf U.,
Nampoothiri Sheela
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61971
Subject(s) - phenotype , presentation (obstetrics) , variable expression , gene , renal agenesis , fetus , genetics , biology , medicine , pregnancy , kidney , obstetrics
Cenani Lenz syndrome is a rare autosomal recessive disorder associated with variable degree of limb malformations, dysmorphism, and renal agenesis. It is caused due to pathogenic variants in the LRP4 gene, which plays an important role in limb and renal development. Mutations in the APC gene have also been occasionally associated with CLS. The phenotypic spectrum ranges from mild to very severe perinatal lethal type depending on the type of variant. We report a pathogenic variant, c.2710 del T (p.Trp904GlyfsTer5) in the LRP4 gene, in a fetus with lethal Cenani Lenz syndrome with antenatal presentation of tetraphocomelia and symmetrical involvement of hands and feet.