title: Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants inTGDS.
abstract: Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. Recently, homozygous or compound heterozygous pathogenic variants inTGDShave been discovered to cause Catel-Manzke syndrome. Here, we describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre Robin sequence (but without cleft palate) and hyperphalangy, and we compare his phenotype with the seven previously described patients with pathogenic variants inTGDS. Our patient is on the severe end of the phenotypic spectrum, presenting with respiratory complications and failure to thrive. Furthermore, our finding of a homozygous p.Ala100Ser pathogenic variant in our patient supports that it is a common mutation in Catel-Manzke syndrome.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 77030.
authors.forename: Rachel
authors.initials: R
authors.lastname: Pferdehirt
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 77030.
authors.forename: Mahim
authors.initials: M
authors.lastname: Jain
authors.affiliation: Department of Genetics, Baylor Scott & White Health, Texas A&M Health Science Center College of Medicine, Temple, Texas, USA 76508.
authors.forename: Maria A
authors.initials: MA
authors.lastname: Blazo
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 77030.
authors.forename: Brendan
authors.initials: B
authors.lastname: Lee
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 77030.
authors.forename: Lindsay C
authors.initials: LC
authors.lastname: Burrage
keywords: Catel-Manzke syndrome; Manzke dysostosis; Pierre Robin sequence; TGDS; hyperphalangy