{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T06:50:20Z","timestamp":1767855020346,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,11,25]],"date-time":"2019-11-25T00:00:00Z","timestamp":1574640000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Catel\u2010Manzke syndrome, also known as micrognathia\u2010digital\u2010syndrome, is a rare autosomal recessive disorder characterized by the combination of the two cardinal features Pierre\u2010Robin sequence and bilateral hyperphalangy leading to ulnar clinodactyly (ulnar curvature of the phalanges) and radial deviation (radial angulation at the metacarpophalangeal joint) of the index fingers. Individuals without one of these major hallmarks or with additional hand malformations have been described as atypical or Catel\u2010Manzke\u2010like syndrome. Biallelic <jats:italic>TGDS<\/jats:italic> pathogenic variants have thus far been detected in eight individuals with typical Catel\u2010Manzke syndrome and in one fetus with additional features. Here we report on two individuals with <jats:italic>TGDS<\/jats:italic> pathogenic variants who presented with mild radial deviation and ulnar clinodactyly of the index fingers but without radiologic signs of hyperphalangy. Furthermore, both individuals have disproportionate short stature, a feature that has not yet been associated with Catel\u2010Manzke syndrome. Our data broaden the phenotypic spectrum of <jats:italic>TGDS<\/jats:italic>\u2010associated Catel\u2010Manzke syndrome and expand the indication for diagnostic testing.<\/jats:p>","DOI":"10.1002\/ajmg.a.61419","type":"journal-article","created":{"date-parts":[[2019,11,26]],"date-time":"2019-11-26T07:10:08Z","timestamp":1574752208000},"page":"431-436","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<i>TGDS<\/i> pathogenic variants cause Catel\u2010Manzke syndrome without hyperphalangy"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9410-9290","authenticated-orcid":false,"given":"Felix","family":"Boschann","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyra E.","family":"Stuurman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christiaan","family":"de Bruin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjon","family":"van Slegtenhorst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermine A.","family":"van Duyvenvoorde","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarina G.","family":"Kant","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam  Rotterdam The Netherlands"},{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1449-9909","authenticated-orcid":false,"given":"Nadja","family":"Ehmke","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,11,25]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Differentialdiagnose von Krankheitssymptomen bei Kindern und Jugendlichen: Krankheiten der Thorax\u2010 und Bauchorgane\/Bearb","author":"Catel W.","year":"1963"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.11.004"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30042"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.001"},{"issue":"3","key":"e_1_2_8_6_1","first-page":"187","article-title":"The Catel\u2010Manzke syndrome in a female infant","volume":"9","author":"Kant S. 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