This history page in the series "Leaders in MSK Radiology" is dedicated to the achievements of the Polish radiologist Kazimierz Kozlowski, whose name is associated with the Kozlowski type of spondylometaphyseal dysplasia.
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The First Report of Biallelic Missense Mutations in the Gene Causing Pyle Disease in Two Siblings.
Front Genet
October 2020
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Background: Pyle disease is a rare autosomal recessive bone dysplasia characterized by the broadening of metaphyses with generalized cortical thinning. Homozygous truncating mutations in secreted frizzled-related protein 4 () were, to date, the only known variants causative for this type of skeletal disorder. SFRP4 controls cortical and trabecular bone remodeling by differential regulation of the canonical and non-canonical WNT signaling in both bone compartments.
View Article and Find Full Text PDFA 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Am J Med Genet A
November 2018
Department of Medical Genetics, Medical University, Warsaw, Poland.
We present a natural history of a 32-year-old man with Hajdu-Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH2 (c.6424-6427delTCTG, p.Ser2142ArgfsX4), who has been followed up for a period of 23 years (between 9 and 32 years).
View Article and Find Full Text PDFSMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.
Eur J Med Genet
October 2017
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; Department of Medicine, Center for Aging, Tulane University, School of Medicine, New Orleans, LA, USA. Electronic address:
Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal changes. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM_021625.
View Article and Find Full Text PDFTributes.
S Afr Med J
May 2016
Emeritus Professor of Otolaryngology, University of Cape Town, South Africa.
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
J Hum Genet
July 2016
Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Desbuquois dysplasia type 2 (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal and postnatal growth retardation, generalized joint laxity with dislocation of large joints and facial dysmorphism. The condition was recently described to result from autosomal recessive mutations in XYLT1, encoding the enzyme xylosyltransferase-1. In this paper, we report on a Polish patient with DBQD2 who presented with severe short stature of prenatal onset, joint laxity, psychomotor retardation and multiple radiological abnormalities including short metacarpals, advanced bone age and exaggerated trochanters.
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